| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
| Glutaric Aciduria Iii |
|
Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Subcutaneous lipoma, Goiter |
OMIM:615108 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus, Osteoporosis |
OMIM:610947 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Subcutaneous lipoma, Goiter |
OMIM:615109 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... |
OMIM:609152 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Subcutaneous lipoma, Goiter |
OMIM:158350 |
| Myopathy, Mitochondrial, And Ataxia |
|
Multiple lipomas, Hyperthyroidism, Increased circulating prolactin concentration |
OMIM:617675 |
| Myasthenia Gravis |
|
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Glycosuria, Acrocyano... |
ORPHA:589 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... |
OMIM:609698 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Lipoma, Hyperthyroidism, Increased circulating prolactin concentration |
ORPHA:502423 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... |
ORPHA:525731 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... |
OMIM:262700 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Abnormality of thyroid physiology |
OMIM:615542 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism |
ORPHA:48377 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism |
ORPHA:449291 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Decreased circulating ACT... |
ORPHA:199299 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Mccune-Albright Syndrome |
|
Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali... |
ORPHA:562 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Thy... |
ORPHA:37042 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... |
OMIM:269200 |
| Hydatidiform Mole |
|
Hyperthyroidism |
ORPHA:99927 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Wolfram-Like Syndrome |
|
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... |
ORPHA:411590 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Glucose intolerance, Failure to thrive, Hypothyroidism, Goiter |
ORPHA:254892 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
| Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, Hyperthyroidism |
OMIM:170390 |
| Tbck-Related Intellectual Disability Syndrome |
|
Central adrenal insufficiency, Hyperthyroidism, Hypothyroidism, Decreased response to growth horm... |
ORPHA:488632 |
| Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Acrocardiofacial Syndrome |
|
Hyperthyroidism, Camptodactyly of finger |
ORPHA:2008 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure |
ORPHA:369873 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Obesity,... |
ORPHA:567 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma |
ORPHA:276399 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration,... |
OMIM:275100 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperthyroidism, Lipoatrophy, Camptodacty... |
ORPHA:3455 |
| Livedoid Vasculopathy |
|
Graves disease, Atrophic scars, Diabetes mellitus |
ORPHA:542643 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
| Gitelman Syndrome |
|
Maternal diabetes, Insulin resistance, Hyperhidrosis, Diabetic ketoacidosis, Glucose intolerance,... |
ORPHA:358 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Hypogonadism, Hypothyroidism, Decreased response to growth hormone stimulation test, Small for ge... |
ORPHA:3363 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
| Fucosidosis |
|
Failure to thrive, Lipoatrophy, Hyperhidrosis, Acrocyanosis, Hypothyroidism |
ORPHA:349 |
| Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... |
ORPHA:227982 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
| Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Scarring, Weight loss, Abnormality of the adrenal glands, Hy... |
ORPHA:797 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... |
ORPHA:227990 |
| Hawkinsinuria |
|
Failure to thrive, Hypothyroidism |
ORPHA:2118 |
| Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Flexi... |
ORPHA:59 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
| Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia, Hypothyroidism, Goiter |
OMIM:274400 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Umbilical hernia, Hypothyroidism |
ORPHA:2349 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Overweight, Flexion contracture, Failure to thrive, Hypothyroidism |
ORPHA:391372 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Dorsocervical fat pad, Small for gestational age, Hypoglycemia, Decreased body... |
ORPHA:391408 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... |
ORPHA:95496 |
| Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... |
ORPHA:2905 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Inguinal hernia, Hypothyroidism |
OMIM:613970 |
| Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Flexion contracture, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, Hypothyroidism |
OMIM:619851 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Lipodystrophy, Decreased response to growth hormone stimulation test, Panhypopituitarism, Failure... |
OMIM:618922 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Inguinal hernia, Hypothyroidism, Hypoglycemia |
ORPHA:397590 |
| 4H Leukodystrophy |
|
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... |
ORPHA:289494 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
| Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight |
OMIM:618347 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Hypoxe... |
ORPHA:456312 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Recurrent hypoglycemia, Hypothyroidism, Delayed puberty |
OMIM:616817 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Camptodactyly of finger, Delayed puberty |
ORPHA:2994 |
| 14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
| Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Failure to thrive, Hypothyroidism, Camptodactyly |
OMIM:608104 |
| Athyreosis |
|
Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Failure to thrive, Hypothyroidism |
OMIM:610883 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
| Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Thyroiditis, Cellulitis, Type I diabetes mellitus, Hypothyroidism |
OMIM:606367 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Joint contracture, Failure to thrive, Hypothyroidism, Hypoglycemia |
OMIM:618005 |
| Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Failure to thrive, Decreased response to growth hor... |
ORPHA:363528 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... |
OMIM:240300 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
| Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Cystinosis |
|
Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Failure to thrive, Hyp... |
ORPHA:213 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Camptodactyly, Type I diabetes mellitus, Hypothyroidism, Hashimoto ... |
OMIM:613385 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Lig4 Syndrome |
|
Small for gestational age, Failure to thrive, Hypothyroidism, Type II diabetes mellitus |
OMIM:606593 |
| Down Syndrome |
|
Umbilical hernia, Hypothyroidism, Type II diabetes mellitus, Obesity |
ORPHA:870 |
| Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
| Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Failure to thrive in infancy, Thyroiditis, Camptodactyly, Type I diabetes mellitus, Hypothyroidism |
ORPHA:228426 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Weight loss, Hyperglycemia, Decreased serum tes... |
ORPHA:465508 |
| Reni Syndrome |
|
Hypogonadism, Hypothyroidism, Hypoglycemia, Adrenal insufficiency |
OMIM:617575 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Hypothyroidism |
OMIM:616541 |
| Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
| Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Failure to thrive, Small for gestational age, Abnormality of thyroid physiology |
ORPHA:1830 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Decreased body weight, Hypo... |
ORPHA:1667 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Hypothyroidism |
OMIM:618999 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Decreased response to growth hormone stimulation test, Bilateral camptodactyly, Delayed puberty, ... |
OMIM:619234 |
| Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Obesity |
ORPHA:563 |
| Omenn Syndrome |
|
Failure to thrive, Hypothyroidism, Thyroiditis |
ORPHA:39041 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... |
OMIM:612885 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Failure to thrive, Hypothyroidism |
OMIM:304790 |
| Oculoskeletodental Syndrome |
|
Small for gestational age, Hypothyroidism, Elbow flexion contracture |
OMIM:618440 |
| Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia |
OMIM:601005 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Umbilical hernia, Hypothyroidism |
ORPHA:85321 |
| Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism |
OMIM:256300 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Abnormal subcutaneous fat tissue distribution, Flexion contractur... |
OMIM:212065 |
| Adiposis Dolorosa |
|
Hypothyroidism, Xerostomia, Obesity |
ORPHA:36397 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Failure to thrive, Hypothyroidism |
OMIM:619147 |
| Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight |
OMIM:609053 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Diabetes mellitus, Achilles tendon contracture, Delayed puberty, Failure to thrive, Hypothyroidis... |
OMIM:616263 |
| Thyroid Ectopia |
|
Abnormality of the thyroid gland, Umbilical hernia, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... |
ORPHA:231226 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Hypothyroidism, Abnormal dental enamel morphology, Hypohidrosis |
ORPHA:1812 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty |
OMIM:615952 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism, Hypercapnia |
ORPHA:505395 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Failure to thrive, Hypothyroidism, Thyroiditis |
OMIM:614700 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... |
ORPHA:404454 |
| Pseudoxanthoma Elasticum |
|
Multiple lipomas, Hypothyroidism |
ORPHA:758 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
| Familial Adenomatous Polyposis |
|
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... |
ORPHA:733 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... |
ORPHA:231214 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Hypogonadotropic hypogonadism |
ORPHA:752 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypohidrosis |
ORPHA:1563 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity |
ORPHA:412 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Hypothyroidism |
ORPHA:1923 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Panniculitis, Acrocyanosis, Hypothyr... |
ORPHA:51 |
| Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... |
ORPHA:550 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
ORPHA:231222 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Contractures of the large joints, Hypothyroidism, Decreased response to growth hormone stimulatio... |
ORPHA:96179 |
| Interstitial Lung And Liver Disease |
|
Hypoxemia, Failure to thrive, Hypothyroidism |
OMIM:615486 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism, Progressive flexion contractures |
ORPHA:98808 |
| Isolated Biliary Atresia |
|
Small for gestational age, Severe failure to thrive, Hypopituitarism, Failure to thrive, Hypothyr... |
ORPHA:30391 |
| Infantile Nephropathic Cystinosis |
|
Failure to thrive, Abnormality of thyroid physiology, Glycosuria |
ORPHA:411629 |
| Scleromyxedema |
|
Abnormality of thyroid physiology |
ORPHA:167635 |
| Ring Chromosome 12 Syndrome |
|
Small for gestational age, Hypothyroidism |
ORPHA:1439 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Camptodactyly of finger, Thyroid agenesis, Ectopic thyroid, Failure to thrive... |
ORPHA:3047 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency |
ORPHA:300298 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Dental enamel pits, Hypothyroidism, Shagreen patch |
OMIM:191100 |
| Martin-Probst Syndrome |
|
Umbilical hernia, Hypothyroidism |
OMIM:300519 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of thyroid physiology |
OMIM:300968 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital diaphragmatic h... |
ORPHA:116 |
| Lymphatic Malformation 6 |
|
Hypothyroidism, Cellulitis |
OMIM:616843 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Thyroiditis, Hypoglycemic seizures, Delayed puberty, Failure to thrive, Hypothyroid... |
ORPHA:79259 |
| Syndromic Diarrhea |
|
Small for gestational age, Hypothyroidism, Inguinal hernia, Hypoplasia of the thymus |
ORPHA:84064 |
| Immunodeficiency 31C |
|
Weight loss, Diabetes mellitus, Hypothyroidism, Delayed puberty |
OMIM:614162 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Absence of subcutaneous fat, Hypothyroidism, Exocrine pancreatic insufficiency |
OMIM:620005 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Small for gestational age, Decreased response to growth ho... |
ORPHA:699 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Knee flexion contracture... |
ORPHA:3206 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Hypothyroidism, Shagreen patch |
OMIM:613254 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Hypothyroidism, Glycosuria |
ORPHA:411634 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Diabet... |
ORPHA:93111 |
| Microphthalmia, Syndromic 2 |
|
Hypothyroidism, Flexion contracture, Adrenal insufficiency, Decreased body weight, Umbilical hern... |
OMIM:300166 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
| Primrose Syndrome |
|
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Flexion contracture, Knee fle... |
OMIM:259050 |
