Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... |
OMIM:609698 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Congenital Atransferrinemia |
|
Arthritis, Hypothyroidism |
ORPHA:1195 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Abnormality of thyroid physiology |
OMIM:615542 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Primary gonadal insufficiency, Delayed puberty, Male hypogonadism, Central dia... |
ORPHA:411590 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Osteoporosis, Hypothyroidism |
OMIM:618625 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... |
ORPHA:95716 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
Gne Myopathy |
|
Limited shoulder movement, Hypothyroidism, Limited wrist extension |
ORPHA:602 |
Potocki-Shaffer Syndrome |
|
Decreased skull ossification, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... |
ORPHA:90673 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism, Elbow ankylosis, Hamstring contractures |
ORPHA:96183 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Joubert Syndrome 26 |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism |
OMIM:616784 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism, Rheumatoid arthritis |
ORPHA:48377 |
Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, Hypothyroidism |
OMIM:619851 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Hypogonadism, Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:3363 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... |
ORPHA:95717 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism |
OMIM:275100 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism |
OMIM:614450 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone l... |
OMIM:612089 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Hawkinsinuria |
|
Hypothyroidism |
ORPHA:2118 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... |
OMIM:612885 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Hypothyroidism |
OMIM:618849 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... |
OMIM:613388 |
Athyreosis |
|
Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone stru... |
ORPHA:93160 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Limitation of joint mobility, Hypothyroidism, Camptodactyly of finger, Delayed puberty |
ORPHA:2994 |
Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Flexion contracture, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
4H Leukodystrophy |
|
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... |
ORPHA:289494 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620211 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Recurrent fractures, Osteomalacia, Primary hypercortisolism, Precocious puberty,... |
ORPHA:562 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ... |
ORPHA:226313 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Hyperthyroidism, Osteomalacia, Precocious puberty in fem... |
ORPHA:249 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Pseudohypoparathyroidism, Subcutaneous ossification, Elevated circulating parathyro... |
OMIM:103580 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... |
OMIM:612462 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism |
ORPHA:2349 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Hypothyroidism |
ORPHA:213 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Hypoparathyroidism, Diabetes mellitus, Osteoporosis, Increased susceptibility to frac... |
ORPHA:231222 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... |
OMIM:241530 |
Ddost-Cdg |
|
Osteopenia, Primary hypothyroidism |
ORPHA:300536 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia |
ORPHA:89937 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism, Joint hypermobility |
OMIM:619013 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Hypogonadotropic hypogonadism |
ORPHA:752 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Osteoporosis, Rickets |
OMIM:560000 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Allan-Herndon-Dudley Syndrome |
|
Flexion contracture, Abnormality of thyroid physiology |
ORPHA:59 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:264700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:277440 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, Abnormality of ... |
ORPHA:95496 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism |
ORPHA:589618 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Abnormal circulating renin, Increased c... |
OMIM:614736 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Flexion contracture, Hypothyroidism |
ORPHA:391372 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Rickets, Elevated circulating parathyroid hormone level, Hypophosph... |
OMIM:307800 |
Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism |
OMIM:613970 |
Hydatidiform Mole |
|
Hyperthyroidism |
ORPHA:99927 |
Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:618347 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:261229 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Abnormality of the endocrine s... |
ORPHA:2905 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Li-Campeau Syndrome |
|
Hypothyroidism |
OMIM:619189 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Hypothyroidism |
OMIM:607906 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Osteoporosis, Arthritis, Stiff... |
ORPHA:465508 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism |
ORPHA:2491 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
Adiposis Dolorosa |
|
Arthritis, Xerostomia, Hypothyroidism |
ORPHA:36397 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Advanced ossification of carpal bones, Congenital hypothyroidism |
OMIM:614613 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... |
OMIM:240300 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Hypothyroidism, Camptodactyly |
OMIM:608104 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Hypothyroidism |
ORPHA:1923 |
Pediatric-Onset Graves Disease |
|
Craniosynostosis, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased ci... |
ORPHA:525731 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Diabetes mellitus, Hypothyroidism, Delayed puberty |
ORPHA:391408 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... |
ORPHA:453533 |
Myasthenia Gravis |
|
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Rheumatoid arthritis,... |
ORPHA:589 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:615108 |
Atelis Syndrome 1 |
|
Hypothyroidism |
OMIM:620184 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:363528 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypohidrosis |
ORPHA:1563 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Decreased response to growth hormone stimulation test, Bilateral camptodactyly, Del... |
OMIM:619234 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:615109 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Diabetes mellitus, Hyperthyroidism, Hypothyroidism |
ORPHA:449291 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Rickets |
OMIM:616026 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism |
OMIM:619908 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi... |
ORPHA:412057 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Potocki-Lupski Syndrome |
|
Hypothyroidism |
OMIM:610883 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Primary hyperparathyroidism, Osteomalacia |
OMIM:600740 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypothyroidism, Delayed puberty |
OMIM:616817 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Joint hyperflexibility, Hypothyroidism |
ORPHA:2479 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Os... |
ORPHA:398079 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... |
OMIM:269200 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Thyroiditis, Rickets, Delayed puberty, Type I diabetes mellitus |
OMIM:212750 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Joint contracture, Hypothyroidism |
OMIM:618005 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Arthritis, Hypothyroidism |
OMIM:304790 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Arthrogryposis multiplex congenita, Hypothyroidism, Craniosynostosis |
ORPHA:254346 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:98754 |
Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Hypothyroidism |
OMIM:617796 |
Multifocal Atrial Tachycardia |
|
Hypothyroidism |
ORPHA:3282 |
Cenani-Lenz Syndrome |
|
Radioulnar synostosis, Synostosis of joints, Hypothyroidism, Synostosis of carpal bones |
ORPHA:3258 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Osteoporosis, Adrenal insufficiency, Delayed puberty, Hypo... |
ORPHA:231226 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:98793 |
Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Delayed puberty, Joint stiffness |
ORPHA:819 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Delayed proximal femoral epiphyseal ossification, Pi... |
ORPHA:90674 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:177904 |
Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hypothyroidism |
ORPHA:254913 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:177901 |
Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism |
OMIM:600430 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:609053 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Limited elbow extension, Camptodactyly, Type I diabetes mellitus, Hypothyroidism, Hashimoto thyro... |
OMIM:613385 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty |
OMIM:615952 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Delayed puberty, Joint co... |
ORPHA:456312 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Reni Syndrome |
|
Hypogonadism, Hypothyroidism, Adrenal insufficiency |
OMIM:617575 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormality of thyroid physiology |
ORPHA:411629 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Diabetes mellitus, Rickets |
ORPHA:2088 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism |
OMIM:619750 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Diabetes mellitus, Hypothyroidism |
ORPHA:98673 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:158350 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency |
ORPHA:300298 |
Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
Prader-Willi Syndrome |
|
Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ... |
ORPHA:739 |
B4Galt1-Cdg |
|
Hypothyroidism |
ORPHA:79332 |
Monosomy 18P |
|
Hypothyroidism |
ORPHA:1598 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout |
ORPHA:412 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Hypogonadism, Arthrogryposi... |
ORPHA:2671 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism |
OMIM:618829 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism |
OMIM:618999 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Abnormality of thyroid physiology |
ORPHA:1830 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Osteoporosis, Adrenal insufficiency, Delayed puberty, Hypo... |
ORPHA:231214 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism |
OMIM:617763 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism, Progressive flexion contractures, Rheumatoid arthritis |
ORPHA:98808 |
Omenn Syndrome |
|
Hypothyroidism, Thyroiditis |
ORPHA:39041 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... |
ORPHA:3464 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Contractures of the large joints, Hypothyroidism, Decreased response to growth hormone stimulatio... |
ORPHA:96179 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Abnormality of thyroid physiology |
OMIM:300968 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Generalized joint laxity, Hyperthyroidism, Increased circulating prolactin concentration |
ORPHA:502423 |
Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Arthritis, Hypothyroidism, Thyroiditis |
OMIM:614700 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology |
ORPHA:563 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma |
ORPHA:276399 |
Wolcott-Rallison Syndrome |
|
Hypothyroidism, Central hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Exocrine pa... |
ORPHA:1667 |
Timothy Syndrome |
|
Hypothyroidism |
OMIM:601005 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:101800 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Nephrotic Syndrome, Type 1 |
|
Hypothyroidism |
OMIM:256300 |
Down Syndrome |
|
Joint laxity, Hypothyroidism, Type II diabetes mellitus |
ORPHA:870 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Osteoporosis, Central adr... |
ORPHA:488632 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Precocious puberty, Flexion contracture, Xerostomia, Osteoporosis... |
ORPHA:398069 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Scleromyxedema |
|
Abnormality of thyroid physiology |
ORPHA:167635 |
Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypothyroidism, Joint hyperflexibility |
ORPHA:96169 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Acute pancreatitis, Osteoporosis |
OMIM:619487 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Camptodactyly |
ORPHA:228426 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas... |
ORPHA:93111 |
Neuhauser Syndrome |
|
Osteopenia, Primary hypothyroidism |
OMIM:249310 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Seckel Syndrome 7 |
|
Central hypothyroidism |
OMIM:614851 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Flexion contracture, Hypothyroidism, Hypergonadotropic hypogonadism |
OMIM:212065 |
Immunodeficiency 31C |
|
Osteopenia, Diabetes mellitus, Osteomyelitis, Delayed puberty, Hypothyroidism |
OMIM:614162 |
Oculoskeletodental Syndrome |
|
Hypothyroidism, Elbow flexion contracture |
OMIM:618440 |
Chromosome 1P35 Deletion Syndrome |
|
Joint hypermobility, Congenital hypothyroidism |
OMIM:617930 |
Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:293939 |
Spondyloenchondrodysplasia |
|
Hypothyroidism, Arthritis, Juvenile rheumatoid arthritis, Decreased response to growth hormone st... |
ORPHA:1855 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Diabetes mellitus, Sagittal craniosynostosis, Elevated circulating thyroid-stimulatin... |
OMIM:610199 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Craniosynostosis |
OMIM:614114 |
Whipple Disease |
|
Arthritis, Hypothyroidism |
ORPHA:3452 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism |
ORPHA:397590 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Precocious puberty, Hyperhidrosis, Hypothyroidism |
ORPHA:58 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism |
ORPHA:85321 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
OMIM:606367 |
Lig4 Syndrome |
|
Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
Lig4 Syndrome |
|
Hypothyroidism, Type II diabetes mellitus |
OMIM:606593 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Sclerosis of skull base, Juvenile rheumatoid arthritis, Rheumatoid arthritis |
OMIM:607944 |
Ring Chromosome 12 Syndrome |
|
Hypothyroidism, Symphalangism of the thumb |
ORPHA:1439 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Osteoporosis, Hypothyroidism, Goiter |
ORPHA:254892 |
Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
Fucosidosis |
|
Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Osteomyelitis, Abnormality of the endocrine system, Thyroiditis, Type I diabetes... |
ORPHA:37042 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:618922 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Increased circulating prolactin concentration |
OMIM:617675 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Osteoporosis, Thyroiditis, Gout, Increased susceptibility to fractures, Delayed puber... |
ORPHA:79259 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypothyroidism, Craniosynostosis |
ORPHA:453499 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
Monosomy 18Q |
|
Secondary growth hormone deficiency, Hypothyroidism, Joint hypermobility |
ORPHA:1600 |
Microform Holoprosencephaly |
|
Hypothyroidism, Panhypopituitarism, Maternal diabetes |
ORPHA:280200 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Diabetes mellitus, Achilles tendon contracture, Delayed puberty, Hypothyroidism, Exocrine pancrea... |
OMIM:616263 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism |
OMIM:617713 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism |
ORPHA:445038 |
Pseudoxanthoma Elasticum |
|
Joint hyperflexibility, Hypothyroidism |
ORPHA:758 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1812 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Camptodactyly of finger, Thyroid agenesis, Joint hyperflexibility, Ectopic th... |
ORPHA:3047 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism |
OMIM:619147 |
Secondary Short Bowel Syndrome |
|
Primary hypothyroidism, Central hypothyroidism |
ORPHA:95427 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Distal arthrogryposis, Recurrent pancreatitis, Hypothyroidism, Exocrine pancreatic ... |
OMIM:618268 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism, Hypogonadism, Hypothyroidism |
ORPHA:221008 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypothyroidism, Reduced bone mineral density |
ORPHA:1556 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism |
OMIM:226300 |
Hallermann-Streiff Syndrome |
|
Tracheomalacia, Hypothyroidism, Recurrent fractures, Reduced bone mineral density |
ORPHA:2108 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Hyperthyroidism |
OMIM:170390 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... |
ORPHA:550 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... |
ORPHA:769 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
Wilson Disease |
|
Hypoparathyroidism, Osteomalacia, Osteoarthritis, Osteoporosis, Joint hypermobility |
OMIM:277900 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Hyperhidrosis, Lambdoidal ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Hyperhidrosis, Lambdoidal ... |
ORPHA:352665 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Hypothyroidism |
OMIM:616541 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Congenital hypothyroidism, Delayed ossification of carpal bones, Laryngotracheomalaci... |
OMIM:271510 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism |
ORPHA:66634 |
Cystinosis, Nephropathic |
|
Diabetes mellitus, Rickets, Hypohidrosis, Primary hypothyroidism, Delayed puberty, Hypophosphatem... |
OMIM:219800 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Abnormality of the endocrine system, Thyroiditis, Primary hypothyroidism, Delayed pub... |
ORPHA:391487 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Acrocardiofacial Syndrome |
|
Hyperthyroidism, Camptodactyly of finger |
ORPHA:2008 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
Familial Adenomatous Polyposis |
|
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... |
ORPHA:733 |
Mogs-Cdg |
|
Inappropriate antidiuretic hormone secretion, Hypothyroidism |
ORPHA:79330 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis, Osteomalacia |
ORPHA:405 |
Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism |
OMIM:603736 |
Abetalipoproteinemia |
|
Osteopenia, Hypothyroidism |
ORPHA:14 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Joint stiffness, Joint hyperflexibility, ... |
ORPHA:534 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Hypothyroidism, Osteoporosis, Increased susceptibility to fractures |
ORPHA:909 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Decreased response to growth hormone stimulation test, Craniosynostosis, Precocious... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Decreased response to growth hormone stimulation test, Craniosynostosis, Precocious... |
ORPHA:363958 |
Mosaic Variegated Aneuploidy Syndrome |
|
Hypothyroidism, Osteolysis |
ORPHA:1052 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets, Abnormal circulat... |
ORPHA:2636 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Craniosynostosis, Exocrine pancreatic insufficiency |
OMIM:620005 |
White-Kernohan Syndrome |
|
Joint laxity, Hypothyroidism |
OMIM:619426 |
Isolated Biliary Atresia |
|
Hypopituitarism, Hypothyroidism |
ORPHA:30391 |
Martin-Probst Syndrome |
|
Hypothyroidism |
OMIM:300519 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Multiple suture craniosynostosis, Joint hyperflexibility, Ar... |
ORPHA:567 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:618183 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism |
OMIM:613673 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Adr... |
ORPHA:699 |
Aicardi-Goutières Syndrome |
|
Arthritis, Diabetes mellitus, Multiple joint contractures, Hypothyroidism |
ORPHA:51 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... |
OMIM:309000 |
Interstitial Lung And Liver Disease |
|
Hypothyroidism |
OMIM:615486 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Abnormality of the endocrine system, Precocious puberty, Abnormality of... |
ORPHA:438213 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypothyroidism |
ORPHA:93256 |
Lymphatic Malformation 6 |
|
Hypothyroidism |
OMIM:616843 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Hypothyroidism |
OMIM:191100 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Craniosynostosis, Distal arthrogryposis, F... |
ORPHA:506358 |
Aicardi-Goutieres Syndrome 7 |
|
Arthritis, Hypothyroidism |
OMIM:615846 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Hypothyroidism, Decreased response to growth hor... |
ORPHA:444077 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Hypothyroidism, Thyroid hypoplasia, Congenital hypothyroidism |
OMIM:620186 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Hypothyroidism |
ORPHA:457212 |
Sponastrime Dysplasia |
|
Joint laxity, Precocious puberty, Hypothyroidism, Delayed epiphyseal ossification, Generalized jo... |
ORPHA:93357 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Abnormality of the en... |
ORPHA:268261 |
Primrose Syndrome |
|
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobility, Flexion ... |
OMIM:259050 |
Down Syndrome |
|
Joint laxity, Hypothyroidism |
OMIM:190685 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Hypothyroidism |
OMIM:613254 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus |
ORPHA:84064 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Increased circulating gonadotropin level, Delayed puberty, Decreased serum testoste... |
ORPHA:1772 |
Microphthalmia, Syndromic 2 |
|
Hypothyroidism, Flexion contracture, Radioulnar synostosis, Adrenal insufficiency, Contracture of... |
OMIM:300166 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... |
ORPHA:293987 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hyperthyroidism, Hypogonadotropic hypogonadism, Camptodactyly of finger, Decreased re... |
ORPHA:3455 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Hypogonadotropic hypogonadism, Joint st... |
ORPHA:904 |
Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Bone cyst, Abnormality of the adrenal glands, Hypothyroidism... |
ORPHA:797 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Hypogonadism, Camptodactyly of finger, Joint stiffness |
ORPHA:1606 |
Juvenile Nephropathic Cystinosis |
|
Hypothyroidism |
ORPHA:411634 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Diabetes mellitus, Flexion contracture, Osteoporosis, Early onset of se... |
OMIM:194050 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Coffin-Siris Syndrome 12 |
|
Joint laxity, Radioulnar synostosis, Hypothyroidism |
OMIM:619325 |
Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Adrenal hypoplasia, Lambdoidal craniosynostosis, Anterior hypopituitarism, A... |
OMIM:607932 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomyelitis, Osteomalacia |
OMIM:619381 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Adrenocortical carcinoma, Pseudohypoparathyroidism, Hypothyroidism, Ex... |
ORPHA:116 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Congenital hypothyroidism, Hypothyroidism, Camptodactyly of finger, Camptodactyly |
OMIM:607872 |
Generalized Arterial Calcification Of Infancy |
|
Adrenal calcification, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical v... |
ORPHA:51608 |
Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Ab... |
OMIM:188400 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Genitopatellar Syndrome |
|
Hip contracture, Radioulnar synostosis, Hypothyroidism, Knee flexion contracture |
OMIM:606170 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Craniosynostosis, Bilateral camptodacty... |
ORPHA:821 |
Viss Syndrome |
|
Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd toe, Generalized joint... |
OMIM:619472 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Diabetes mellitus, Primary hypothyroidism, Hypothyroidism, Exocrine pancreatic insu... |
OMIM:243800 |
Townes-Brocks Syndrome 1 |
|
Metatarsal synostosis, Hypothyroidism |
OMIM:107480 |
Townes-Brocks Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:857 |