Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 level |
OMIM:615999 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter |
OMIM:274700 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter |
OMIM:188570 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Thyroid Dyshormonogenesis 6 |
|
Congenital hypothyroidism, Hypothyroidism |
OMIM:607200 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Papillary thyroid carcinoma, Euthyroid multinodular goiter |
OMIM:138800 |
Thyroid Cancer, Nonmedullary, 4 |
|
Non-medullary thyroid carcinoma, Goiter |
OMIM:616534 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Myxedema |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Hypohidro... |
OMIM:255900 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Goiter |
OMIM:274300 |
Pituitary Dwarfism With Large Sella Turcica |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
OMIM:262710 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Goiter, Multinodular goiter, Ovarian thecoma, Thyroid nodule, Nephroblastoma |
OMIM:180295 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism |
OMIM:225250 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism |
OMIM:300123 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Renal oncocytoma, Papillary thyroid carcinoma, Nodular goiter, Renal cortical adenoma, Pa... |
ORPHA:97290 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... |
OMIM:275200 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter, Renal cyst |
OMIM:138790 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Follicular thyroid carcinoma, Papillary rena... |
ORPHA:319487 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriately ... |
OMIM:301035 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nephritis, Renal insufficiency |
ORPHA:3327 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Glutaric aciduria, Goiter |
OMIM:231690 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Pendred Syndrome |
|
Thyroid carcinoma, Goiter, Hyperparathyroidism, Hypothyroidism, Nephropathy |
ORPHA:705 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Goiter |
OMIM:274240 |
Wolfram-Like Syndrome |
|
Dementia, Male hypogonadism, Diabetes mellitus, Hypothyroidism, Abnormality of the upper urinary ... |
ORPHA:411590 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... |
ORPHA:95716 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreased circulating T4... |
OMIM:618573 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Thyroid Lymphoma |
|
Hashimoto thyroiditis, Hyperthyroidism, Goiter, Hypothyroidism |
ORPHA:97285 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Familial Gestational Hyperthyroidism |
|
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:99819 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:424 |
Igg4-Related Thyroid Disease |
|
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotoxicosis with... |
ORPHA:64744 |
Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level |
OMIM:603373 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Graves Disease, Susceptibility To, 1 |
|
Graves disease, Hyperhidrosis, Goiter |
OMIM:275000 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 level, Central hypothyroidism, Inappropriately normal thyroid-stimu... |
OMIM:301033 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Aa Amyloidosis |
|
Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Nephropathy, Hypothyroidism, Chro... |
ORPHA:85445 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Goiter |
OMIM:613239 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Hypothyroidism |
OMIM:268040 |
Hawkinsinuria |
|
4-Hydroxyphenylpyruvic aciduria, Hypothyroidism, 4-hydroxyphenylacetic aciduria |
ORPHA:2118 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnormality of th... |
ORPHA:99886 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic ki... |
OMIM:617575 |
Multiple Endocrine Neoplasia, Type Iia |
|
Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Increased... |
OMIM:171400 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism |
OMIM:616113 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... |
OMIM:610755 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Genetic Transient Congenital Hypothyroidism |
|
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... |
ORPHA:226316 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... |
OMIM:176400 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... |
OMIM:262600 |
Joubert Syndrome 26 |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Micropenis, Panhyp... |
OMIM:616784 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Cognitive impairment, Polycystic ovaries, Neoplasm of the thyr... |
ORPHA:457059 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Neoplasm of the adrenal cortex, Pitu... |
ORPHA:163634 |
Congenital Hypothyroidism |
|
Goiter, Nephrolithiasis, Hypogonadism, Abnormality of the thyroid gland, Anterior hypopituitarism... |
ORPHA:442 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... |
ORPHA:99832 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hypothyroidism, Goiter |
ORPHA:83601 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevated calcitonin, Hy... |
ORPHA:1332 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, C... |
ORPHA:226313 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... |
ORPHA:3143 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Cognitive impairment, Hypothyroidism |
ORPHA:2349 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... |
ORPHA:90673 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Abnormality of the urethra, Hypothyroidism |
ORPHA:752 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased circulating T4 level, Decreased thyroid-stimulating hormone level, Abnormality of thyro... |
ORPHA:95715 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypothyroidism, Diffu... |
OMIM:256300 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Increased serum testosterone level, Renal tubular dysfunction, Macroorchidism,... |
ORPHA:562 |
Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Hypoparathyroidism, Congenital hypothyroidism, Megacystis, Thyroid hemiagenesis, Ele... |
ORPHA:209905 |
Galloway-Mowat Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Proteinuria, Nephrotic syndrome, Hypothyro... |
OMIM:618347 |
Bamforth-Lazarus Syndrome |
|
Congenital hypothyroidism, Thyroid agenesis |
ORPHA:1226 |
Cowden Syndrome 5 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... |
OMIM:615108 |
Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
Potocki-Shaffer Syndrome |
|
Micropenis, Nephroblastoma, Delayed puberty, Hypothyroidism |
ORPHA:52022 |
Nephropathy, Deafness, And Hyperparathyroidism |
|
Renal insufficiency, Hyperparathyroidism, Nephropathy, Parathyroid hyperplasia |
OMIM:256120 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Mental deterioration, Decreased... |
ORPHA:289494 |
Cowden Syndrome 6 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... |
OMIM:615109 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Hypothyroidism,... |
OMIM:612885 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism |
OMIM:614450 |
Athyreosis |
|
Hypothyroidism, Thyroid agenesis |
ORPHA:95713 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism, Premature ovarian insufficiency |
OMIM:618625 |
Pediatric-Onset Graves Disease |
|
Increased circulating T4 level, Goiter, Thyrotoxicosis with diffuse goiter, Graves disease, Incre... |
ORPHA:525731 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Elevated circulating thyr... |
OMIM:218700 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypohidrosis, Nephropathy, Hypothyroidism, Renal insufficiency |
ORPHA:1563 |
Morgagni-Stewart-Morel Syndrome |
|
Cognitive impairment, Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abn... |
ORPHA:77296 |
Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism, Podocyte foot process effacement, Stage 5 chronic kidney disease, Diff... |
OMIM:619609 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
Pituitary Stalk Interruption Syndrome |
|
Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia, Hypothyro... |
ORPHA:95496 |
Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydronephrosis, Hydroureter, Renal dysplasia, Renal cyst, Decreased testicular ... |
OMIM:146510 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... |
ORPHA:90674 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hypothyroidism |
OMIM:617713 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting, Cryptorchidism, Congenital hypothyroidism, Precocious puberty |
OMIM:614736 |
Cystinosis |
|
Renal tubular dysfunction, Nephrogenic diabetes insipidus, Type I diabetes mellitus, Hypothyroidi... |
ORPHA:213 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Cowden Syndrome 1 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Ovarian carcinoma, Hypothyro... |
OMIM:158350 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Membranous nephropathy, Nephrotic syndrome, Hypothyroidism |
OMIM:618999 |
Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter, Ductal carcinoma in situ |
OMIM:616858 |
Immunodeficiency 31C |
|
Diabetes mellitus, Hypothyroidism, Delayed puberty |
OMIM:614162 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Cognitive impairment, Hypogonadism, Low urinary c... |
OMIM:612462 |
Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism |
ORPHA:88643 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism |
OMIM:617763 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:91347 |
Thyroid Ectopia |
|
Ectopic thyroid, Hypothyroidism, Abnormality of the thyroid gland |
ORPHA:95712 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... |
OMIM:174800 |
Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Cognitive impairment, Abnor... |
ORPHA:411629 |
Branchiootorenal Syndrome 1 |
|
Renal agenesis, Renal malrotation, Renal dysplasia, Euthyroid goiter, Polycystic kidney dysplasia... |
OMIM:113650 |
Pten Hamartoma Tumor Syndrome |
|
Thyroid carcinoma, Multinodular goiter, Renal cell carcinoma, Thyroid adenoma, Abnormality of the... |
ORPHA:306498 |
Multiple Endocrine Neoplasia Type 1 |
|
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... |
ORPHA:652 |
Thyroid Hypoplasia |
|
Thyroid hypoplasia, Hypothyroidism |
ORPHA:95720 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Abnormality of endocrine pancreas physiology, Horseshoe kidney, Renal agenesis, Rena... |
ORPHA:93111 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Cognitive impairment, Hypogonadism, Low urinary c... |
OMIM:103580 |
Fragile X Tremor/Ataxia Syndrome |
|
Dementia, Urinary incontinence, Hypothyroidism, Premature ovarian insufficiency, Mental deteriora... |
OMIM:300623 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism |
ORPHA:2491 |
Familial Multinodular Goiter |
|
Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neoplasm, Multinodular goi... |
ORPHA:276399 |
Developmental And Epileptic Encephalopathy 90 |
|
Fetal pyelectasis, Hypothyroidism |
OMIM:301058 |
Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... |
OMIM:160980 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodul... |
OMIM:203800 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism |
ORPHA:96183 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypohidrosis, Hypothyroidism |
ORPHA:1882 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Nephrocalcino... |
OMIM:240300 |
Li-Campeau Syndrome |
|
Cryptorchidism, Micropenis, Hypothyroidism |
OMIM:619189 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypothyroidism |
OMIM:613038 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hydronephrosis, Diabetes insipidus, Diabetes mellitus, Hypothyroidism, Hydrou... |
OMIM:222300 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated alpha-fetoprotein |
OMIM:615970 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Renal dysplasia, Hypothyroidism, Cryptorchidism, Hypoplasia of penis, Renal ins... |
ORPHA:85321 |
Methimazole Embryofetopathy |
|
Hypospadias, Hypothyroidism, Abnormality of the thyroid gland |
ORPHA:1923 |
Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ectopic thyroid, Thyroid hypoplasia, Hypothyroidism, Thyroid agenesis, Cryptorchidism, Thyroid dy... |
ORPHA:3047 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism |
ORPHA:48377 |
Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... |
ORPHA:94088 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Hypercalciuria, Elevated urinar... |
ORPHA:653 |
Lig4 Syndrome |
|
Cryptorchidism, Micropenis, Hypothyroidism |
OMIM:606593 |
Cowden Syndrome |
|
Abnormal penis morphology, Goiter, Renal cell carcinoma, Cognitive impairment, Adenoma sebaceum, ... |
ORPHA:201 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Goiter, Cognitive impairment, Hyperthyroidism, Diabetes mellitus, Hypothyroidism, Nocturia |
ORPHA:254892 |
Schimke Immuno-Osseous Dysplasia |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Pancreatitis, Abnormality ... |
ORPHA:1830 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Delayed puberty, Hypothyroidism |
ORPHA:2994 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Congenital hypothyroidism |
OMIM:275100 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypospadias, Chordee, Renal dysplasia, Bilateral cryptorchidism, Hypothyroidism, Premature ovaria... |
ORPHA:96179 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type II diabetes mellitus, Cognitive impairment, Pancreatitis, Hypogonadism, Type I diabetes mell... |
ORPHA:412057 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Dementia, Cognitive impairment, Hypogonadism, Diabetes mellitus, Hypothyroidism |
ORPHA:98673 |
Multiple Endocrine Neoplasia, Type Iib |
|
Elevated urinary epinephrine, Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, P... |
OMIM:162300 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... |
ORPHA:411634 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the kidney, Diabetes mellitus, Hypothyroidism |
ORPHA:391372 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Cryptorchidism, Delayed puberty, Hypothyroidism |
OMIM:616817 |
Fanconi Anemia, Complementation Group I |
|
Horseshoe kidney, Renal hypoplasia, Abnormal renal morphology, Hypothyroidism, Decreased response... |
OMIM:609053 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Progressive neurologic deterioration, Hypothyroidism, Hypopituitarism, Memo... |
ORPHA:90065 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Renal salt wasting, Congenital hy... |
ORPHA:361 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism, Abnormality of the kidney, Nephrolithiasis |
ORPHA:521445 |
Adiposis Dolorosa |
|
Xerostomia, Memory impairment, Hypothyroidism |
ORPHA:36397 |
Hydatidiform Mole |
|
Hyperthyroidism |
ORPHA:99927 |
Familial Adenomatous Polyposis |
|
Neoplasm of the adrenal gland, Neoplasm of the gallbladder, Goiter, Papillary thyroid carcinoma, ... |
ORPHA:733 |
Omenn Syndrome |
|
Thyroiditis, Nephrotic syndrome, Hypothyroidism |
ORPHA:39041 |
Stiff Person Spectrum Disorder |
|
Hyperhidrosis, Diabetes mellitus, Hypothyroidism |
ORPHA:3198 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Congenital hypothyroi... |
OMIM:601427 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Diabetes mellitus |
OMIM:614613 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Hypothyroidism |
OMIM:608104 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal cyst, Hypothyroidism, 3-Methylglutaconic aciduria, Renal insufficiency |
ORPHA:445038 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... |
ORPHA:226307 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism |
OMIM:619013 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Chronic kidney disease, Exocrine pancreatic insufficiency... |
ORPHA:1667 |
Myasthenia Gravis |
|
Glycosuria, Primary adrenal insufficiency, Hyperthyroidism, Abnormality of the thymus, Hashimoto ... |
ORPHA:589 |
Ddost-Cdg |
|
Primary hypothyroidism, Nephrotic range proteinuria |
ORPHA:300536 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism |
ORPHA:352530 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... |
ORPHA:453533 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypospadias, Mild proteinuria, Renal insufficiency, Hypothyroidism |
OMIM:619147 |
Potocki-Lupski Syndrome |
|
Abnormal renal morphology, Hypothyroidism |
OMIM:610883 |
Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
Aicardi-Goutieres Syndrome 9 |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Micrope... |
OMIM:619487 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
Allan-Herndon-Dudley Syndrome |
|
Cryptorchidism, Abnormality of thyroid physiology |
ORPHA:59 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Renal hypoplasia, Cognitive impairment, Micropenis, Diabetes mellitus, Hypothyroidism, Unilateral... |
OMIM:616541 |
Martin-Probst Syndrome |
|
Hypoplastic nipples, Chordee, Micropenis, Hypothyroidism, Cryptorchidism, Proteinuria, Renal insu... |
OMIM:300519 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Polycystic ovaries, Nodular goiter, Type I diabetes mellitus |
ORPHA:371428 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
ORPHA:324737 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Cognitive impairment, Progressive neurologic deterioration, Glomerular sclerosis, Nephropathy, Co... |
ORPHA:247691 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Primary adrenal insufficiency, Hyperthyroidism, Thymoma, Hypothyroidis... |
OMIM:269200 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Dementia, Urinary bladder sphincter dysfunction, Pollakisuria, Hypothyroidism, Memory impairment |
ORPHA:93256 |
Melas |
|
Hypoparathyroidism, Dementia, Type II diabetes mellitus, Focal segmental glomerulosclerosis, Prox... |
ORPHA:550 |
Timothy Syndrome |
|
Hypothyroidism |
OMIM:601005 |
Beta-Thalassemia Intermedia |
|
Adrenal insufficiency, Hypoparathyroidism, Proximal tubulopathy, Cholelithiasis, Hypogonadism, Di... |
ORPHA:231222 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypospadias, Cryptorchidism, Microphallus, Hypothyroidism |
ORPHA:397590 |
Mpi-Cdg |
|
Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Oculoskeletodental Syndrome |
|
Mucopolysacchariduria, Renal agenesis, Hypothyroidism, Cryptorchidism, Hypercalciuria |
OMIM:618440 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Hypothyroidism, Hypergonadotropic hypogonad... |
OMIM:212065 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypothyroidism, Delayed puberty |
ORPHA:391408 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Generalized aminoaciduria, Progressive neurologic deterioration, Nephroli... |
OMIM:219800 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic single thyroid nodule, Urinary retention, Thyrotoxicosis with toxic mul... |
ORPHA:79102 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Decreased serum insulin-like growth factor 1, Micropenis, Medullary nephrocalcinosis... |
ORPHA:363528 |
Koolen-De Vries Syndrome |
|
Hypospadias, Ureteral duplication, Hydronephrosis, Renal duplication, Hypothyroidism, Vesicourete... |
ORPHA:96169 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia, Hypothyroid... |
ORPHA:819 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypothyroidism |
OMIM:618829 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Type I diabetes mellitus, Hypothyroidism, Delayed puberty |
OMIM:615952 |
Lig4 Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Type II diabetes mellitus, Hypothyroidism |
ORPHA:99812 |
Monosomy 18P |
|
Hypothyroidism |
ORPHA:1598 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hypogonadism, Hyper... |
ORPHA:3464 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Type I diabetes mellitus, Hypothyroidism |
OMIM:304790 |
Fucosidosis |
|
Hypothyroidism, Mucopolysacchariduria, Hyperhidrosis |
ORPHA:349 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hydronephrosis, Renal agenesis, Thyroid hypoplasia, Renal hypoplasia/aplasia, Adrenal hypoplasia |
OMIM:308050 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Hydronephrosis, Unilateral breast hypoplasia, Abnormality of thyroid physiology |
OMIM:300968 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism |
ORPHA:300298 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Hypothyroidism, Perineal hypospadias, 3-Methylglutaconic aciduria, Hypo... |
ORPHA:66634 |
Allan-Herndon-Dudley Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Oliguria |
ORPHA:514 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypothyroidism |
OMIM:603736 |
Microform Holoprosencephaly |
|
Maternal diabetes, Renal agenesis, Panhypopituitarism, Hypothyroidism, Hypoplasia of penis |
ORPHA:280200 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
Cenani-Lenz Syndrome |
|
Renal hypoplasia/aplasia, Crossed fused renal ectopia, Hypothyroidism |
ORPHA:3258 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Renal dysplasia, Cryptorchidism, Polyuria, Hypothyroidism |
OMIM:618183 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Delaye... |
OMIM:619234 |
Spondyloenchondrodysplasia |
|
Hematuria, Hypothyroidism, Chronic kidney disease, Decreased response to growth hormone stimulati... |
ORPHA:1855 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Precocious puberty, Hypothyroidism |
ORPHA:254346 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypospadias, Thyroid hypoplasia, Abnormal localization of kidney, Abnormality of the hypothalamus... |
ORPHA:2166 |
Hypophosphatemic Rickets |
|
Elevated circulating parathyroid hormone level, Hyperphosphaturia, Nephrocalcinosis, Hypocalciuri... |
ORPHA:437 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Tubulointerstitial nephritis, Xerostomia, Nodular goiter, Abn... |
ORPHA:79078 |
Tbck-Related Intellectual Disability Syndrome |
|
Central adrenal insufficiency, Cognitive impairment, Hyperthyroidism, Hypothyroidism, Cryptorchid... |
ORPHA:488632 |
Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus |
ORPHA:563 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Cognitive impairment, Tubulointerstitial fibrosis, Polycystic ovaries, Pancreat... |
ORPHA:79259 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Breast hypoplasia, Glandular hypospadias, Hypothyroidism |
ORPHA:1439 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Renal steatosis, Diabetes mellitus, Hypothyroidism |
ORPHA:412 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Xerostomia, Premature adrenarche, Hypogonadotr... |
ORPHA:398079 |
Seckel Syndrome 7 |
|
Central hypothyroidism |
OMIM:614851 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperthyroidism, Diabetes mellitus, Hypothyroidism |
ORPHA:449291 |
Stüve-Wiedemann Syndrome |
|
Ectopic thyroid, Hypohidrosis, Hypothyroidism, Hyperhidrosis |
ORPHA:3206 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis, Cryptorchidism, Hypoplasia of penis, Supernumerary nipple |
ORPHA:1812 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes mellitus, Hypothyroidism, Decreased s... |
ORPHA:465508 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Long penis, Nephrocalcinosis, Insulin-resistant diabetes mell... |
ORPHA:769 |
Phace Syndrome |
|
Ectopic thyroid, Hypothyroidism |
ORPHA:42775 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Premature pubarche, Premature thelarche, Hypothyroidism, Ketonuria |
OMIM:616878 |
Tuberous Sclerosis 1 |
|
Renal cell carcinoma, Adenoma sebaceum, Renal cyst, Renal angiomyolipoma, Hypothyroidism, Precoci... |
OMIM:191100 |
Poems Syndrome |
|
Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadism, Diabetes mellit... |
ORPHA:2905 |
Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:293939 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Micropenis, Congenital hypothyroidism, Supernumerary nipple |
ORPHA:2519 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephropathy, Abnormality of the endo... |
ORPHA:37042 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:98754 |
B4Galt1-Cdg |
|
Hypothyroidism |
ORPHA:79332 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Congenital hypothyroidism, Gonadotropin deficiency, Elevated circulating thyroid-stimulating horm... |
OMIM:610978 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:98793 |
Down Syndrome |
|
Renal hypoplasia/aplasia, Type II diabetes mellitus, Hypothyroidism |
ORPHA:870 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Xerostomia, Absence of pubertal development, C... |
ORPHA:398069 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Diabetes mellitus, Hypothyroidism, E... |
ORPHA:456312 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Cognitive impairment, Hypothyr... |
ORPHA:1556 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:177904 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Thyroiditis, Type I diabetes mellitus, Hypothyroidism |
OMIM:606367 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hashimoto thyroiditis, Type I diabetes mellitus, Hypothyroidism |
OMIM:613385 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:177901 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Duplication of renal pelvis, Hypothyroidism |
ORPHA:457212 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Thyroid carcinoma, Increased circulating cortisol level, Abnormali... |
ORPHA:249 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Nephrocalcinosis |
OMIM:618005 |
Dominant Beta-Thalassemia |
|
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, De... |
ORPHA:231226 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Bile duct proliferation, Dark yellow urine, Hypothyroidism, Hypopituitarism |
ORPHA:30391 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:398073 |
Tuberous Sclerosis 2 |
|
Renal cell carcinoma, Adenoma sebaceum, Renal cyst, Renal angiomyolipoma, Hypothyroidism, Precoci... |
OMIM:613254 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Horseshoe kidney, Ovarian serous cystadenoma, Unilateral cryptorchidism, Streak ovar... |
ORPHA:1772 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism |
OMIM:618922 |
Aicardi-Goutieres Syndrome 1 |
|
Diabetes insipidus, Hypothyroidism |
OMIM:225750 |
Thymic Aplasia |
|
Aplasia of the thymus, Recurrent urinary tract infections, Thyroiditis, Hypothyroidism |
ORPHA:83471 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Increased circulating prolactin concentration |
OMIM:617675 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Thyroiditis, Type I diabetes mellitus, Hypothyroidism |
OMIM:614700 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Thyroiditis, Type I diabetes mellitus, Hypothyroidism |
ORPHA:228426 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism |
ORPHA:2479 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Cognitive impairment, Secondary hyperparathy... |
ORPHA:273 |
Pearson Syndrome |
|
Adrenal insufficiency, Hypoparathyroidism, Lacticaciduria, Renal cyst, Glycosuria, Pancreatic fib... |
ORPHA:699 |
Bilateral Polymicrogyria |
|
Mental deterioration, Central hypothyroidism, Cognitive impairment |
ORPHA:268940 |
Beta-Thalassemia Major |
|
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, De... |
ORPHA:231214 |
Acrocardiofacial Syndrome |
|
Hypospadias, Hyperthyroidism, Hypoplasia of penis, Cryptorchidism |
ORPHA:2008 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Decreased growth hormo... |
OMIM:101800 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Xerostomia, Premature adrenarche, Decrease... |
ORPHA:739 |
Down Syndrome |
|
Hypothyroidism |
OMIM:190685 |
Carney Complex |
|
Thyroid carcinoma, Sertoli cell neoplasm, Increased circulating cortisol level, Papillary thyroid... |
ORPHA:1359 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Increased circulating prolactin concentration |
ORPHA:502423 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Primary hypothyroidism |
ORPHA:95427 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Congenital hypothyroidism, Pancreatic cysts, Renal cyst, Polycystic kidney... |
OMIM:610199 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical carcinoma, Adrenocortical cytomegaly, Ureteral duplication, Congenital megaureter,... |
ORPHA:116 |
Pseudoxanthoma Elasticum |
|
Hypothyroidism, Nephrocalcinosis |
ORPHA:758 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hydronephrosis, Abnormality of bladder morphology, Hypothyroidism, Vesicoureteral reflux, Cryptor... |
ORPHA:453499 |
Whipple Disease |
|
Hypothyroidism |
ORPHA:3452 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of the thymus, Abnormality of the adrenal glands, Cryptorchidism, ... |
ORPHA:861 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
Pallister-Hall Syndrome |
|
Abnormal prolactin level, Hypospadias, Central adrenal insufficiency, Adrenocorticotropic hormone... |
ORPHA:672 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Pancreatic fibrosis, Diabetes mellitus, Hypothyroidism, Delayed puberty |
OMIM:616263 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Central hypothyroidism, Bilateral cryptorchidism, Cryptorchidism, Decreased testicul... |
OMIM:300998 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hypothyroidism |
OMIM:615486 |
Mogs-Cdg |
|
Hypothyroidism, Inappropriate antidiuretic hormone secretion, Hydrocele testis |
ORPHA:79330 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis, Hypothyroidism |
OMIM:607944 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
OMIM:614114 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Urinary incontinence, Steroid-dependent nephrotic syndrome |
OMIM:300912 |
Monosomy 18Q |
|
Micropenis, Bilateral cryptorchidism, Secondary growth hormone deficiency, Hypothyroidism |
ORPHA:1600 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Chordee, Posterior pituitary hypoplasia, Abnormality of the endocrine system, Recurr... |
ORPHA:268261 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Pineal cyst, Hydronephrosis, Renal duplication, Primary adrenal insufficiency, Recur... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Pineal cyst, Hydronephrosis, Renal duplication, Primary adrenal insufficiency, Recur... |
ORPHA:363958 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
Megalocornea-Mental Retardation Syndrome |
|
Primary hypothyroidism |
OMIM:249310 |
White-Kernohan Syndrome |
|
Horseshoe kidney, Hydronephrosis, Hydroureter, Hypothyroidism |
OMIM:619426 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Urethral valve, Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Hyp... |
OMIM:107480 |
Alexander Disease |
|
Hypothyroidism, Precocious puberty, Diabetes mellitus, Hyperhidrosis |
ORPHA:58 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Renovascular hypertension, Abnormality of the endocrine system, Primary hypothyroidism, Thyroidit... |
ORPHA:391487 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Palmoplantar hyperhidrosis, Cognitive impairment, Congenital hypothyroidism |
OMIM:617527 |
Digeorge Syndrome |
|
Hydronephrosis, Renal dysplasia, Parathyroid agenesis, Cholelithiasis, Decreased circulating para... |
OMIM:188400 |
Syndromic Diarrhea |
|
Renal hypoplasia, Hypoplasia of the thymus, Polycystic kidney dysplasia, Hypothyroidism |
ORPHA:84064 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hydronephrosis, Hyperhidrosis, Hypothyroidism, Cryptorchidism, Supernumerary nipple, Vesicoureter... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hydronephrosis, Hyperhidrosis, Hypothyroidism, Cryptorchidism, Supernumerary nipple, Vesicoureter... |
ORPHA:352665 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Ketonuria |
ORPHA:480864 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Hypoparathyroidism, Hypoplasia of the thymus, Cholelithiasis, Hype... |
ORPHA:567 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Hypospadias, Congenital hypothyroidism, Hypogonad... |
ORPHA:280651 |
Alpha-Fetoprotein Deficiency |
|
Decreased levels of alpha-fetoprotein |
OMIM:615969 |
Townes-Brocks Syndrome |
|
Hypospadias, Renal hypoplasia, Urethral valve, Abnormality of the kidney, Multiple renal cysts, H... |
ORPHA:857 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Hypothyroidism |
ORPHA:1052 |
Cerebrotendinous Xanthomatosis |
|
Progressive psychomotor deterioration, Cognitive impairment, Cholelithiasis, Hypothyroidism |
ORPHA:909 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Premature adrenarche, Enuresis, Abnormality of the hypothalamus-pituitary... |
ORPHA:293987 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Diabetes insipidus, Nephrocalcinosis, Nephrolithiasis, Parotitis, A... |
ORPHA:797 |
Lymphatic Malformation 6 |
|
Hypothyroidism, Hydrocele testis |
OMIM:616843 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypogonadism, Cryptorchidism, Hypothyroidism, Premature ovarian insufficiency |
ORPHA:221008 |
Williams Syndrome |
|
Hypercalciuria, Abnormality of the bladder, Type II diabetes mellitus, Renovascular hypertension,... |
ORPHA:904 |
Williams-Beuren Syndrome |
|
Renal hypoplasia, Urethral stenosis, Early onset of sexual maturation, Nephrocalcinosis, Pelvic k... |
OMIM:194050 |
Leprechaunism |
|
Central hypothyroidism, Long penis, Nephrocalcinosis, Enlarged ovaries, Hyperaldosteronism, Incre... |
ORPHA:508 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Hypothyroidism |
ORPHA:2108 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Horseshoe kidney, Hypothyroidism, Vesicoureteral reflux, Decreased response to growt... |
ORPHA:444077 |
Ring Chromosome 13 Syndrome |
|
Hypospadias, Abnormal renal physiology, Urogenital sinus anomaly, Primary hypothyroidism, Micrope... |
ORPHA:96176 |
1P36 Deletion Syndrome |
|
Hypospadias, Hydronephrosis, Annular pancreas, Renal cyst, Hypogonadism, Hypothyroidism, Cryptorc... |
ORPHA:1606 |
Abetalipoproteinemia |
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Hypothyroidism |
ORPHA:14 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hydronephrosis, Abnormality of the anterior pituitary, Abnormality of the endocrine system, Nephr... |
ORPHA:438213 |
Schinzel-Giedion Syndrome |
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Hypospadias, Central hypothyroidism, Hydronephrosis, Abnormality of the ureter, Streak ovary, Ann... |
ORPHA:798 |
Aicardi-Goutières Syndrome |
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Micropenis, Diabetes mellitus, Hypothyroidism |
ORPHA:51 |
Charge Syndrome |
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Horseshoe kidney, Hypoparathyroidism, Hydronephrosis, Renal agenesis, Renal hypoplasia, Hypogonad... |
OMIM:214800 |
Gabriele-De Vries Syndrome |
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Hydronephrosis, Ureteropelvic junction obstruction, Hypothyroidism, Cryptorchidism, Decreased res... |
ORPHA:506358 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Urinary urgency, Thyroid hypoplasia, Pelvic kidney, Small pituitary gland, Micropenis, Cryptorchi... |
OMIM:619503 |
Wiedemann-Rautenstrauch Syndrome |
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Hypospadias, Increased serum testosterone level, Hydronephrosis, Type II diabetes mellitus, Dilat... |
ORPHA:3455 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Ureteral duplication, Congenital hypothyroidism, Pancreatic hypoplasia, Aplasia/Hypoplasia of the... |
ORPHA:2255 |
Sotos Syndrome |
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Hypospadias, Hydronephrosis, Ureteral duplication, Renal agenesis, Congenital posterior urethral ... |
ORPHA:821 |
Microphthalmia, Syndromic 6 |
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Hypospadias, Renal hypoplasia, Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia... |
OMIM:607932 |
Johanson-Blizzard Syndrome |
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Hypospadias, Hydronephrosis, Hypoplastic nipples, Urethrovaginal fistula, Micropenis, Diabetes me... |
OMIM:243800 |
Coffin-Siris Syndrome 12 |
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Hypospadias, Horseshoe kidney, Cryptorchidism, Hypothyroidism |
OMIM:619325 |
Microphthalmia, Syndromic 2 |
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Hypospadias, Adrenal insufficiency, Cryptorchidism, Hypothyroidism |
OMIM:300166 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Congenital hypothyroidism |
OMIM:271510 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Semilobar Holoprosencephaly |
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Central hypothyroidism, Diabetes insipidus, Abnormality of the endocrine system, Panhypopituitari... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Central hypothyroidism, Diabetes insipidus, Abnormality of the endocrine system, Panhypopituitari... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central hypothyroidism, Diabetes insipidus, Abnormality of the endocrine system, Panhypopituitari... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Central hypothyroidism, Diabetes insipidus, Abnormality of the endocrine system, Panhypopituitari... |
ORPHA:93924 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Hypospadias, Congenital hypothyroidism, Hypothyroidism, Ectopic kidney, Cryptorchidism |
OMIM:607872 |
Sponastrime Dysplasia |
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Hypospadias, Precocious puberty, Hypothyroidism |
ORPHA:93357 |
Peters Plus Syndrome |
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Hypospadias, Ureteral duplication, Hydronephrosis, Congenital hypothyroidism, Renal duplication, ... |
ORPHA:709 |
Doors Syndrome |
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Adrenal hyperplasia, Hydronephrosis, Congenital hypothyroidism, Nephrocalcinosis, Abnormality of ... |
ORPHA:79500 |
Kabuki Syndrome 1 |
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Congenital hypothyroidism, Micropenis, Crossed fused renal ectopia, Premature thelarche, Ureterop... |
OMIM:147920 |
Viss Syndrome |
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Hydronephrosis, Hypothyroidism |
OMIM:619472 |
Primrose Syndrome |
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Congenital hypothyroidism, Bilateral cryptorchidism, Diabetes mellitus, Hypergonadotropic hypogon... |
OMIM:259050 |
Myopia 23, Autosomal Recessive |
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OMIM:615431 |