Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Decre... |
OMIM:620198 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... |
OMIM:609698 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... |
OMIM:301033 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... |
OMIM:188570 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... |
OMIM:620211 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Blue Diaper Syndrome |
|
Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increase... |
ORPHA:94086 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... |
ORPHA:71529 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... |
OMIM:603233 |
Chylomicron Retention Disease |
|
Failure to thrive, Diarrhea, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemi... |
OMIM:246700 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... |
ORPHA:95715 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Abnormality of the kidney, Obesity |
OMIM:615988 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age |
OMIM:240900 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Perineal hypospadias |
OMIM:615542 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... |
ORPHA:2118 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
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 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal morphology, Gastroesophageal... |
OMIM:610883 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Abnormality of the upper urinary tract, Primary gonadal insufficiency, Delayed... |
ORPHA:411590 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... |
ORPHA:79644 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Abnormal circulating insulin concentration, Increased... |
ORPHA:293964 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Hypoproteinemia, Renal insufficiency, Congenital nephrotic syndrome,... |
OMIM:256300 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Constipation, Hypothyroidism |
OMIM:275120 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating thyroglobulin... |
OMIM:609152 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypogonadism, M... |
ORPHA:3363 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Glutaric aciduria, Diarrhea, Vomiting, Failure to thrive, Goiter |
OMIM:231690 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism |
OMIM:275100 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Hypogonadism, Obesity, Micropenis |
ORPHA:85274 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... |
ORPHA:90673 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea, ... |
ORPHA:263455 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Transi... |
ORPHA:552 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... |
ORPHA:276608 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogon... |
OMIM:615993 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, ... |
ORPHA:79319 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free f... |
ORPHA:276575 |
Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Chronic diarrhea, Nephrotic syndr... |
ORPHA:85445 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Diarrhea, Obesity, Hypoinsul... |
OMIM:600955 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes, Large for ges... |
ORPHA:324575 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Decrease... |
OMIM:618156 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... |
OMIM:618347 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Type I di... |
ORPHA:276580 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Hypophosphatemia, Renal tubular... |
ORPHA:213 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Decreased circulating free fatty acid level, H... |
ORPHA:276556 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Joubert Syndrome 26 |
|
Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy... |
OMIM:616784 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dia... |
ORPHA:96180 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Proteinuria, Diarrhea, Renal cyst, Steatorrhea, Nephrotic syndrom... |
OMIM:212065 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Hyperinsulinemia, Primary hy... |
ORPHA:97279 |
Allan-Herndon-Dudley Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Diarrhea, Vomiting, Steatorrhea, Failure to thrive, Hypocholesterolemia |
ORPHA:71 |
Gne Myopathy |
|
Hypothyroidism, Mildly elevated creatine kinase |
ORPHA:602 |
Pendred Syndrome |
|
Increased circulating thyroglobulin level, Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Diarrhea, Steatorrhea, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... |
OMIM:203800 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Overweight, Constipation, Fai... |
ORPHA:391372 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... |
ORPHA:411634 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp... |
ORPHA:79445 |
Athyreosis |
|
Thyroid agenesis, Constipation, Hypothyroidism |
ORPHA:95713 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight, Increased total bilirubin |
ORPHA:890 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:369873 |
Potocki-Shaffer Syndrome |
|
Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty |
ORPHA:52022 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Diarrhea, Elevated circulating creatinine concentration, Hypoalbuminemia, Vomiting, Decreased cir... |
OMIM:608104 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Abnormality of the kidney, Renal cyst, Obesity |
OMIM:615982 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... |
ORPHA:412 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Diarrhea, Activat... |
ORPHA:424 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... |
ORPHA:289494 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Gastroesophageal reflux, Hypothyroidism |
OMIM:619927 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... |
OMIM:240300 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Pitu... |
ORPHA:90674 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Thyroid Dyshormonogenesis 1 |
|
Constipation, Hypothyroidism, Goiter |
OMIM:274400 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... |
OMIM:615830 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... |
OMIM:612885 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... |
ORPHA:99819 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Renal dysplasia, Hypospadias, Obesity |
OMIM:615985 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Failure to thrive, Congenital hypothyroidism |
ORPHA:96183 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... |
ORPHA:453533 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology, Increased body... |
OMIM:182290 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Ddost-Cdg |
|
Gastroesophageal reflux, Constipation, Primary hypothyroidism, Failure to thrive, Nephrotic range... |
ORPHA:300536 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:3085 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Large for gestational age, Hypop... |
OMIM:616026 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... |
OMIM:618183 |
Thyroid Lymphoma |
|
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia, Failure to thrive, Hypothyroidism |
OMIM:618999 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Constipation, Hypothyroidism |
ORPHA:2349 |
Developmental And Epileptic Encephalopathy 90 |
|
Fetal pyelectasis, Hypothyroidism, Constipation |
OMIM:301058 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Vomiting, Mild proteinu... |
OMIM:619147 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Hypoalbuminemia, Gastroe... |
ORPHA:79324 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism |
OMIM:618625 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... |
OMIM:616113 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
Pendred Syndrome |
|
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter |
ORPHA:705 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body... |
ORPHA:2298 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Failure to thrive, Chronic diarrhea, Decreased LDL chole... |
ORPHA:14 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... |
ORPHA:562 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Abnormality of thyroid physiology, Small for gestational age, Min... |
ORPHA:1830 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Abnormality of the thyroid gland, Obesity, Hypogonadism, ... |
ORPHA:2234 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Chronic ... |
ORPHA:261222 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,... |
ORPHA:819 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Failure to thrive, Adrenal hypoplasia, Hypothyr... |
ORPHA:95496 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d... |
ORPHA:1667 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Hypohidrosis, Hypocalcemia, Nephropathy, Hypothyroidism |
ORPHA:1563 |
B4Galt1-Cdg |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Decrease... |
ORPHA:79332 |
Allan-Herndon-Dudley Syndrome |
|
Decreased body mass index, Small for gestational age, Abnormality of thyroid physiology, Failure ... |
ORPHA:59 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Reduced circulating transferrin concentration, Chronic diarrhea, Intestin... |
ORPHA:90363 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism, Mildly elevated creatine kinase |
ORPHA:663 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Failure to thrive, Hypospadias, Decreased response ... |
ORPHA:363528 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Dysphagia |
ORPHA:589618 |
Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Obesity, Constipation, Hypothyroidism |
ORPHA:36397 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... |
OMIM:615300 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Enterocolitis, Central hypothy... |
ORPHA:95427 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development, Micro... |
OMIM:610628 |
Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypogonadism, Hyperalaninemia, Hyp... |
ORPHA:254913 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... |
ORPHA:91347 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micropenis, Hypocholesterolemia |
OMIM:618810 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia |
OMIM:619013 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... |
OMIM:619609 |
Li-Campeau Syndrome |
|
Micropenis, Hypothyroidism |
OMIM:619189 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Dysphagia, Hypothyroidism... |
OMIM:222300 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Abnormality of the urethra, Hypothyroidism, Hypogonadotropic hypogonadism |
ORPHA:752 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Gastroesophageal reflux, Diarrhea, Hypothyroidism, Decreased body weight |
OMIM:607906 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxicosis with diffuse goiter,... |
ORPHA:525731 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... |
ORPHA:465508 |
Omenn Syndrome |
|
Chronic diarrhea, Thyroiditis, Nephrotic syndrome, Failure to thrive, Hypothyroidism |
ORPHA:39041 |
Acetazolamide-Responsive Myotonia |
|
Hypothyroidism, Dysphagia |
ORPHA:99736 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Chronic constipation, Gastroesophagea... |
OMIM:618829 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Constipation, Gastroesophageal reflux, Increased body weight |
ORPHA:589905 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypercalcemia, Small for gestational age, Hypercalciuria, Mucopolysacchariduria, ... |
OMIM:618440 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Hypothyroidism, Renal hypoplasia, Delayed puberty |
OMIM:616817 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism |
ORPHA:2491 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Obesity, Hypokalemia, Abdom... |
OMIM:219090 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadias, Renal insufficiency... |
ORPHA:93111 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:2994 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Failure to thrive in infancy, Gastritis, Cachexia, Abnormality of the endocrine ... |
ORPHA:37042 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
Scleromyxedema |
|
Abnormality of thyroid physiology, Elevated circulating creatine kinase concentration, Hypoperist... |
ORPHA:167635 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Chronic diarrhea, Ileus, Type I diabetes mellitus, Failure to thrive, Hypothy... |
OMIM:304790 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension |
ORPHA:401923 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, 3... |
OMIM:251900 |
Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Obesity |
OMIM:600430 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism |
OMIM:619851 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism |
OMIM:613970 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Increased bod... |
ORPHA:264580 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Acute pancreatitis, Thicken... |
OMIM:619487 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... |
OMIM:616629 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Overweight, Chronic constipation, Hypothyroidism, Small for gestational age |
OMIM:617796 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Precocious puberty, Hyperlipidemia, Obesity, Hypothyroidism |
ORPHA:254346 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi... |
OMIM:609053 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Decreased body weight, Hypothyroidism, Delayed puberty |
ORPHA:391408 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Diarrhea, Thyroiditis, Stage 5 chronic kidney ... |
ORPHA:79259 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increa... |
ORPHA:251004 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Increased serum iron, Hypogonadism, Adrenal insuffi... |
ORPHA:300298 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hypospadias, Abn... |
ORPHA:209905 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Obesity, Increased serum testosterone level |
ORPHA:247768 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Oral-pharynge... |
OMIM:616878 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Hypomagnesemia |
OMIM:619908 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Constipation, Hypocholesterolemia |
OMIM:244450 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Nausea |
ORPHA:90065 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Hypothyroidism, Hypospadias |
ORPHA:1923 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, Elevated circulating C-reactive protein concentration, Elevated circulating amylo... |
OMIM:619750 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Delayed menarche, H... |
ORPHA:412057 |
Myasthenia Gravis |
|
Hyperthyroidism, Primary adrenal insufficiency, Dysphagia, Abnormal thymus morphology, Glycosuria... |
ORPHA:589 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ... |
OMIM:269200 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio... |
ORPHA:739 |
Atelis Syndrome 1 |
|
Hypothyroidism |
OMIM:620184 |
Lig4 Syndrome |
|
Small for gestational age, Type II diabetes mellitus, Micropenis, Failure to thrive, Hypothyroidism |
OMIM:606593 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... |
ORPHA:769 |
Fucosidosis |
|
Failure to thrive, Mucopolysacchariduria, Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Truncal obesity, ... |
OMIM:616541 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen... |
ORPHA:398079 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Increased bod... |
ORPHA:79240 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Hypothyroidism, Diarrhea, Hypoalbuminemia, Vomiting, Hypoproteinemia |
OMIM:226300 |
Isolated Biliary Atresia |
|
Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Xanthelasma, Severe ... |
ORPHA:30391 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Proximal tubulopathy, Hypogonadism, Adrenal insufficiency,... |
ORPHA:231222 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Obesity |
ORPHA:563 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Renal hypoplasia, Hypothyroidism, Renal dysplasia |
ORPHA:85321 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Elevated... |
ORPHA:96179 |
Thyroid Hypoplasia |
|
Constipation, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Proteinuria, Diarrhea, Foca... |
ORPHA:550 |
Dubowitz Syndrome |
|
Hypospadias, Chronic diarrhea, Gastroesophageal reflux, Hypocholesterolemia, Episodic vomiting |
OMIM:223370 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Delayed puberty, Type I diabetes mellitus, Achalasia, Hypothyroidism, Exocrine pancreatic insuffi... |
OMIM:615952 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Hypothyroidism, Microphallus, Hypospadias |
ORPHA:397590 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Unilateral renal agenesis, Elevated circulating thyroid-stimulating ho... |
OMIM:101800 |
Pearson Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... |
ORPHA:699 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Hypothyroidism |
ORPHA:445038 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Diabetes mellitus, Hypothyroidism, Dysphagia |
ORPHA:98673 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism |
ORPHA:48377 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Chronic diarrhea, Gastroesophageal reflux, Type I diabetes mellitus... |
OMIM:613385 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:615108 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Xerostomia, In... |
ORPHA:398069 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Diarrhea, Adrenal insufficie... |
ORPHA:231226 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism, Urinary incontinence, Bowel incontinence |
OMIM:300623 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Abnormal pineal melatonin secretion, Increased serum bile acid concent... |
ORPHA:69665 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Aplasia of the thymus, Diarrhea, Thyroiditis, Hypocalcemic te... |
ORPHA:83471 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Perineal hypospadias, 3-Methylglutaconic aciduria, Elevated circulating glut... |
ORPHA:66634 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Chronic diarrhea, Thyroiditis, Inflammation of the large intestine, Colitis, ... |
OMIM:614700 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:615109 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Chronic diarrhea, Thyroiditis, Type I diabetes mellitus, Hypothyroi... |
OMIM:606367 |
Multifocal Atrial Tachycardia |
|
Hypothyroidism |
ORPHA:3282 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Overweight, Obesity, Hypercholesterolemia, Pancreatitis |
ORPHA:69663 |
Down Syndrome |
|
Obesity, Hypothyroidism, Type II diabetes mellitus, Renal hypoplasia/aplasia |
ORPHA:870 |
Interstitial Lung And Liver Disease |
|
Hyperammonemia, Aminoaciduria, Vomiting, Failure to thrive, Hypothyroidism |
OMIM:615486 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, Hypothyroidism, Abnormal circulating creatine kinase concentration |
ORPHA:263297 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hypothyroidism, Elevated circulating creatine kinase concentration |
OMIM:617713 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... |
OMIM:601427 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Dysphagia, Failure to thri... |
OMIM:618922 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight, Horseshoe kidney |
OMIM:300860 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Gastroesophageal reflux |
ORPHA:449291 |
Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Gastropar... |
ORPHA:254892 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Diarrhea, Adrenal insufficie... |
ORPHA:231214 |
Monosomy 18P |
|
Hypothyroidism |
ORPHA:1598 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Diabetes mellitus, Increased circulating thyroglobulin level, Elevated circulating thyroid-stimul... |
OMIM:610199 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, H... |
ORPHA:90041 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Cachexia, Diarrhea, Hypothyroidism |
ORPHA:3452 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Hypospadias, Abnormality of the kidney, Epispadias, Increased circulating gonadotro... |
ORPHA:1772 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Oliguria, Central hypothyroidism |
ORPHA:514 |
Hydatidiform Mole |
|
Hyperthyroidism |
ORPHA:99927 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Weight loss, Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Micropenis, Reduce... |
OMIM:613673 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism |
OMIM:617763 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Diabetes mellitus, Delayed puberty, Failure to thrive, Hypothyroidism, Exocrine pancreatic insuff... |
ORPHA:456312 |
Poems Syndrome |
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Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... |
ORPHA:2905 |
Meningioma |
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Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... |
ORPHA:2495 |
Distal Xq28 Microduplication Syndrome |
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Hypothyroidism, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Bardet-Biedl Syndrome 20 |
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Proteinuria, Hypercholesterolemia, Obesity, Male hypogonadism, Micropenis, Pancreatitis |
OMIM:619471 |
Cowden Syndrome 1 |
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Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:158350 |
Lig4 Syndrome |
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Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
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Primary hypothyroidism |
OMIM:225050 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
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Recurrent urinary tract infections, Hypothyroidism, Decreased response to growth hormone stimulat... |
OMIM:619234 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Koolen-De Vries Syndrome |
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Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Renal d... |
ORPHA:96169 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Narcolepsy 7 |
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Type II diabetes mellitus, Obesity |
OMIM:614250 |
Neurooculorenal Syndrome |
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Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... |
OMIM:620305 |
Cenani-Lenz Syndrome |
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Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia |
ORPHA:3258 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... |
ORPHA:99889 |
Spondyloenchondrodysplasia |
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Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hemat... |
ORPHA:1855 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Renal dysplasia, Abnormality of thyroid physiology, Hydronephrosis |
OMIM:300968 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Diabetes mellitus, Steatorrhea, Failure to thrive, Hypothyroidism, Delayed puberty, Exocrine panc... |
OMIM:616263 |
Microform Holoprosencephaly |
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Hypoplasia of penis, Renal agenesis, Maternal diabetes, Panhypopituitarism, Hypothyroidism |
ORPHA:280200 |
Martin-Probst Syndrome |
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Renal insufficiency, Proteinuria, Chordee, Micropenis, Hypothyroidism |
OMIM:300519 |
Ring Chromosome 12 Syndrome |
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Small for gestational age, Hypothyroidism, Glandular hypospadias |
ORPHA:1439 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Gastrointestinal hemorrhage, Proteinuria, Elevated circulating creatinine concentration, Glomerul... |
ORPHA:247691 |
Thyroid Ectopia |
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Abnormality of the thyroid gland, Constipation, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Nephrocalcinosis, Failure to thrive, Hypothyroidism |
OMIM:618005 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
ORPHA:480864 |
Leprechaunism |
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Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... |
ORPHA:508 |
Familial Multinodular Goiter |
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Renal cell carcinoma, Hyperthyroidism, Multinodular goiter, Thyroid carcinoma |
ORPHA:276399 |
Myopathy, Mitochondrial, And Ataxia |
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Hyperthyroidism, Elevated circulating creatine kinase concentration, Increased circulating prolac... |
OMIM:617675 |
Tbck-Related Intellectual Disability Syndrome |
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Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:488632 |
Bone Marrow Failure Syndrome 6 |
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Hypothyroidism |
OMIM:618849 |
Alexander Disease |
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Diabetes mellitus, Bowel incontinence, Precocious puberty, Hyperhidrosis, Constipation, Dysphagia... |
ORPHA:58 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy |
ORPHA:228426 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism, Dysphagia |
OMIM:249310 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Adrenocortical cytomegaly, Tall stature, Elevated circulating alpha-fetopro... |
ORPHA:116 |
Trichohepatoneurodevelopmental Syndrome |
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Chronic diarrhea, Steatorrhea, Gastroesophageal reflux, Recurrent pancreatitis, Increased serum b... |
OMIM:618268 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Hypothyroidism, Gastroesophageal reflux, Constipation, Vesicoureteral reflux, Failure to thrive, ... |
ORPHA:453499 |
Sotos Syndrome |
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Abnormality of the kidney, Increased body weight, Overgrowth, Gastroesophageal reflux, Episodic v... |
OMIM:117550 |
Monosomy 18Q |
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Hypothyroidism, Micropenis, Failure to thrive, Slender build, Secondary growth hormone deficiency |
ORPHA:1600 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Hyperthyroidism, Mildly elevated creatine kinase, Increased circulating prolactin concentration |
ORPHA:502423 |
Hellp Syndrome |
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Proteinuria, Increased body weight, Hemoglobinuria, Vomiting, Acute kidney injury, Nausea |
ORPHA:244242 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Bowel incontinence, Pollakisuria, Dysphagia, Urinary bladder sphincter dysfunction, Hypothyroidism |
ORPHA:93256 |
Syndromic Diarrhea |
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Small for gestational age, Gastritis, Renal hypoplasia, Bloody diarrhea, Colitis, Hypoplasia of t... |
ORPHA:84064 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis |
OMIM:615989 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Hypoplasia of penis, Hypothyroidism, Hypohidrosis |
ORPHA:1812 |
Seckel Syndrome 7 |
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Central hypothyroidism |
OMIM:614851 |
White-Kernohan Syndrome |
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Hydroureter, Obesity, Horseshoe kidney, Gastroesophageal reflux, Hypothyroidism, Hydronephrosis |
OMIM:619426 |
Aicardi-Goutieres Syndrome 1 |
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Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
Intellectual Developmental Disorder, X-Linked 98 |
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Steroid-dependent nephrotic syndrome, Urinary incontinence, Central hypothyroidism, Gastroesophag... |
OMIM:300912 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Small for gestational age, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:614114 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Diarrhea, Weight l... |
OMIM:615846 |
Autosomal Dominant Dopa-Responsive Dystonia |
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Hypothyroidism, Transient hyperphenylalaninemia |
ORPHA:98808 |
Wilson Disease |
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Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Decreased circulating parathyroid hor... |
OMIM:188400 |
Pseudoxanthoma Elasticum |
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Nephrocalcinosis, Hypothyroidism, Gastrointestinal hemorrhage |
ORPHA:758 |
Immunodeficiency 31C |
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Diabetes mellitus, Diarrhea, Weight loss, Delayed puberty, Hypothyroidism |
OMIM:614162 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:268261 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Hypospadias, Bowel incontinence... |
ORPHA:567 |
Aromatase Deficiency |
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Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Obesity, Type II diabetes mell... |
ORPHA:91 |
Mogs-Cdg |
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Inappropriate antidiuretic hormone secretion, Chronic constipation, Hypothyroidism |
ORPHA:79330 |
Ohdo Syndrome, Sbbys Variant |
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Hypothyroidism, Hypospadias |
OMIM:603736 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
Rothmund-Thomson Syndrome Type 1 |
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Calcinosis, Small for gestational age, Diarrhea, Hypogonadism, Vomiting, Hypothyroidism |
ORPHA:221008 |
Carney Complex |
|
Tall stature, Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:1359 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gastroparesis, Episodic vomiting, Hyperhidrosis, Overgrowth, Constipation, Vesicoureteral reflux,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gastroparesis, Episodic vomiting, Hyperhidrosis, Overgrowth, Constipation, Vesicoureteral reflux,... |
ORPHA:352665 |
Williams-Beuren Syndrome |
|
Nephrocalcinosis, Early onset of sexual maturation, Gastroesophageal reflux, Vesicoureteral reflu... |
OMIM:194050 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:363958 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Hypothyroidism |
OMIM:191100 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hyperthyroidism, Hypospadias |
ORPHA:2008 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Hyperthyroidism |
OMIM:170390 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Abnormality of the kidney, Nephrolithiasis, Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Abnormality of the endocrine system, Diarrhea, Functional abnormality of the bladder, Thyroiditis... |
ORPHA:391487 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ga... |
ORPHA:444077 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Micropenis, Congenital hypothyroidism |
ORPHA:2519 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication, Hypothyroidism |
ORPHA:457212 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid agenesis, Ectopic thyroid, Failure to thrive, Hypothyroidism, Thyroid... |
ORPHA:3047 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Tubulointerstitial fibrosis |
OMIM:607944 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased res... |
ORPHA:3455 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Obesity, Renal cyst, Hypogonadism, G... |
ORPHA:1606 |
Familial Adenomatous Polyposis |
|
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... |
ORPHA:733 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
Sarcoidosis |
|
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Nephrolithiasis, Hyperca... |
ORPHA:797 |
Lymphatic Malformation 6 |
|
Gastroesophageal reflux, Hypothyroidism |
OMIM:616843 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Congenital hypothyroidism, Gastroesophageal reflux, Unconjugated hyperbili... |
OMIM:620186 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Hypothyroidism |
ORPHA:1556 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Renal hypoplasia, Exocrine pancreatic insufficiency |
OMIM:620005 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the... |
ORPHA:438213 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Hypothyroidism, Nephroblastoma |
ORPHA:1052 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... |
ORPHA:506358 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Co... |
ORPHA:2255 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypospadias, Small for gestational age, Urethrovaginal fistula, Increased VLDL... |
OMIM:243800 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Horseshoe kidney, Chronic constipation, Gastroesophageal reflux, Failure to thrive, ... |
OMIM:619325 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Ectopic kidney, Obesity, Congenital hypothyroidism, Gastroesophageal reflux, Constip... |
OMIM:607872 |
Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea, Hypothyroidism |
ORPHA:909 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Small for gestati... |
OMIM:107480 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Aicardi-Goutières Syndrome |
|
Micropenis, Diabetes mellitus, Hypothyroidism |
ORPHA:51 |
Hallermann-Streiff Syndrome |
|
Hypothyroidism |
ORPHA:2108 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Stüve-Wiedemann Syndrome |
|
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis |
ORPHA:3206 |
Microphthalmia, Syndromic 2 |
|
Decreased body weight, Hypothyroidism, Hypospadias, Adrenal insufficiency |
OMIM:300166 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Microphthalmia, Syndromic 6 |
|
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Renal hypoplasia, Anterior hypopituit... |
OMIM:607932 |
Ring Chromosome 13 Syndrome |
|
Hypospadias, Urogenital sinus anomaly, Primary hypothyroidism, Micropenis, Abnormal renal physiology |
ORPHA:96176 |
Down Syndrome |
|
Hypothyroidism |
OMIM:190685 |
Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Hypospadias, Small for gestational age |
ORPHA:93357 |
Primrose Syndrome |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concent... |
OMIM:259050 |
Viss Syndrome |
|
Chronic gastritis, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux, Dysphagia, Fa... |
OMIM:619472 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Dysphagia, Micropenis, Hypothyroidism, Hydronephrosis |
OMIM:606170 |