SE-ATLAS

45,X/46,XY mixed gonadal dysgenesis 46,XX difference of sex development 46,XX difference of sex development induced by androgens excess 46,XX difference of sex development induced by endogenous maternal-derived androgen 46,XX difference of sex development induced by exogenous maternal-derived androgen 46,XX difference of sex development induced by fetal androgens excess 46,XX difference of sex development induced by fetoplacental androgens excess 46,XX difference of sex development induced by maternal-derived androgen 46,XX difference of sex development-anorectal anomalies syndrome 46,XX difference of sex development-skeletal anomalies syndrome 46,XX disorder of gonadal development 46,XX gonadal dysgenesis 46,XX ovotesticular difference of sex development 46,XX testicular difference of sex development 46,XY complete gonadal dysgenesis 46,XY difference of sex development 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency 46,XY difference of sex development due to a cholesterol synthesis defect 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY difference of sex development due to a testosterone synthesis defect 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect 46,XY difference of sex development due to impaired androgen production 46,XY difference of sex development due to isolated 17,20-lyase deficiency 46,XY difference of sex development due to testicular steroidogenesis defect 46,XY difference of sex development induced by maternal exposure to endocrine disruptors 46,XY difference of sex development of endocrine origin 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of gonadal development 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY ovotesticular difference of sex development 46,XY partial gonadal dysgenesis 48,XXXY syndrome 48,XXYY syndrome 49,XXXXY syndrome 6q16 microdeletion syndrome ACTH-dependent Cushing syndrome ACTH-independent Cushing syndrome ANE syndrome AREDYLD syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Acquired chronic primary adrenal insufficiency Acquired generalized lipodystrophy Acquired premature ovarian failure Acromegaly Acute adrenal insufficiency Addison disease Adrenal Cushing syndrome Adrenal/paraganglial tumor Adrenocortical carcinoma Adrenocortical carcinoma with pure aldosterone hypersecretion Adrenogenital syndrome Adrenomyeloneuropathy Adrenomyodystrophy Adult hypophosphatasia Albright hereditary osteodystrophy Aldosterone-producing adenoma Allan-Herndon-Dudley syndrome Alobar holoprosencephaly Alpha-thalassemia-X-linked intellectual disability syndrome Alström syndrome Anaplastic thyroid carcinoma Androgen insensitivity syndrome Anophthalmia/microphthalmia-esophageal atresia syndrome Apparent mineralocorticoid excess Aromatase deficiency Aromatase excess syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome Athyreosis Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 3 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hypophosphatemic rickets Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal recessive hyperinsulinism due to SUR1 deficiency Autosomal recessive hypophosphatemic rickets Autosomal semi-dominant severe lipodystrophic laminopathy Bamforth-Lazarus syndrome Bardet-Biedl syndrome Bilateral massive adrenal hemorrhage Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Blepharophimosis-epicanthus inversus-ptosis due to copy number variations Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-ptosis-epicanthus inversus syndrome Borjeson-Forssman-Lehmann syndrome Brain-lung-thyroid syndrome CHARGE syndrome Campomelic dysplasia Carney complex Carpenter syndrome Cataract-intellectual disability-hypogonadism syndrome Catecholamine-producing tumor Central congenital hypothyroidism Central precocious puberty Cerebellar ataxia-hypogonadism syndrome Childhood-onset hypophosphatasia Chondrodysplasia-difference of sex development syndrome Chronic primary adrenal insufficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital lipoid adrenal hyperplasia due to STAR deficency Coffin-Lowry syndrome Cohen syndrome Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome Combined pituitary hormone deficiencies, genetic forms Complete androgen insensitivity syndrome Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hypoplasia of maternal cause Congenital generalized lipodystrophy Congenital glucokinase-related hyperinsulinism Congenital hyperinsulinism due to HNF4A deficiency Congenital hypogonadotropic hypogonadism Congenital hypothyroidism Congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to maternal intake of antithyroid drugs Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Congenital isolated ACTH deficiency Congenital isolated hyperinsulinism Congenital lipoid adrenal hyperplasia due to STAR deficency Congenital thyroid malformation without hypothyroidism Corticosteroid-binding globulin deficiency Craniopharyngioma Cushing disease Cushing syndrome Cushing syndrome due to bilateral macronodular adrenocortical disease Cushing syndrome due to ectopic ACTH secretion DEND syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Denys-Drash syndrome Diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant hyperinsulinism Diazoxide-sensitive diffuse hyperinsulinism Difference of sex development Difference of sex development-intellectual disability syndrome Differentiated thyroid carcinoma Disease associated with non-acquired combined pituitary hormone deficiency Disorders of vitamin D metabolism Distal 16p11.2 microdeletion syndrome Distal deletion 9p Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dysmorphism-short stature-deafness-difference of sex development syndrome Ectopic aldosterone-producing tumor Eiken syndrome Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Endogenous Cushing syndrome Exercise-induced hyperinsulinism Familial adrenal hypoplasia with absent pituitary luteinizing hormone Familial gestational hyperthyroidism Familial glucocorticoid deficiency Familial hyperaldosteronism Familial hyperaldosteronism type I Familial hyperaldosteronism type II Familial hyperaldosteronism type III Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 2 Familial hyperthyroidism due to mutations in TSH receptor Familial hypoaldosteronism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial medullary thyroid carcinoma Familial multinodular goiter Familial nonmedullary thyroid carcinoma Familial papillary or follicular thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial peripheral male-limited precocious puberty Familial thyroglossal duct cyst Familial thyroid dyshormonogenesis Fetal iodine syndrome Fragile X syndrome Frasier syndrome Generalized congenital lipodystrophy with myopathy Generalized glucocorticoid resistance syndrome Generalized resistance to thyroid hormone Genetic chronic primary adrenal insufficiency Genetic non-syndromic obesity Genetic obesity Genetic transient congenital hypothyroidism Growth delay due to insulin-like growth factor I resistance Growth delay due to insulin-like growth factor type 1 deficiency Growth hormone insensitivity syndrome HNF1B-related autosomal dominant tubulointerstitial kidney disease Hereditary hypophosphatemic rickets with hypercalciuria Hereditary pheochromocytoma-paraganglioma Hydrocephalus-obesity-hypogonadism syndrome Hyperandrogenism due to cortisone reductase deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism-hyperammonemia syndrome Hypocalcemic rickets Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hypophosphatasia Hypophosphatemic rickets Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome Hypothyroidism due to TSH receptor mutations Hypothyroidism due to deficient transcription factors involved in pituitary development or function IMAGe syndrome Idiopathic congenital hypothyroidism IgG4-related thyroid disease Infantile hypophosphatasia Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Insulin-resistance syndrome type A Insulin-resistance syndrome type B Insulinoma Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intermediate DEND syndrome Isolated congenital hypogonadotropic hypogonadism Isolated follicle stimulating hormone deficiency Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type II Isolated growth hormone deficiency type III Isolated permanent neonatal diabetes mellitus Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Johanson-Blizzard syndrome Kallmann syndrome Kallmann syndrome-heart disease syndrome Laron syndrome Laurence-Moon syndrome Leprechaunism Leydig cell hypoplasia Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia due to partial LH resistance Lipodystrophy-intellectual disability-deafness syndrome Lobar holoprosencephaly Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MAGEL2-related Prader-Willi-like syndrome MEHMO syndrome MODY MOMO syndrome MORM syndrome Maternally-inherited diabetes and deafness McCune-Albright syndrome Meacham syndrome Medullary thyroid carcinoma Microcephalic osteodysplastic primordial dwarfism type II Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Monosomy X Mosaic monosomy X Multiple endocrine neoplasia Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Multiple paragangliomas associated with polycythemia Muscular pseudohypertrophy-hypothyroidism syndrome Müllerian aplasia and hyperandrogenism Neonatal adrenoleukodystrophy Neonatal diabetes mellitus Neonatal iodine exposure Neonatal severe primary hyperparathyroidism Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations Non-acquired combined pituitary hormone deficiency Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired isolated growth hormone deficiency Non-acquired panhypopituitarism Non-acquired pituitary hormone deficiency Non-acquired premature ovarian failure Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Normosmic congenital hypogonadotropic hypogonadism Obesity due to CEP19 deficiency Obesity due to SIM1 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to pro-opiomelanocortin deficiency Obesity due to prohormone convertase I deficiency Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Odontohypophosphatasia Ossification anomalies-psychomotor developmental delay syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Other rare diabetes mellitus PAGOD syndrome PLIN1-related familial partial lipodystrophy Pallister-Hall syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Partial androgen insensitivity syndrome Pendred syndrome Penile agenesis Perinatal lethal hypophosphatasia Peripheral hypothyroidism Peripheral resistance to thyroid hormones Permanent congenital hypothyroidism Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Perrault syndrome Persistent Müllerian duct syndrome Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome Pituitary adenoma Pituitary deficiency Pituitary resistance to thyroid hormone Pituitary stalk interruption syndrome Prader-Willi syndrome Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to translocation Prader-Willi-like syndrome Prenatal benign hypophosphatasia Primary adrenal insufficiency Primary bone dysplasia with defective bone mineralization Primary congenital hypothyroidism Primary congenital hypothyroidism without thyroid developmental anomaly Primary hyperaldosteronism-seizures-neurological abnormalities syndrome Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Primary pigmented nodular adrenocortical disease Primary unilateral adrenal hyperplasia Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1C Pseudoleprechaunism syndrome, Patterson type Pseudopseudohypoparathyroidism Rabson-Mendenhall syndrome Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome Rare adrenal disease Rare adult hypothyroidism Rare diabetes mellitus Rare diabetes mellitus type 1 Rare diabetes mellitus type 2 Rare disease with adrenal Cushing syndrome as a major feature Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Rare endocrine disease Rare endocrine growth disease Rare genetic thyroid disease Rare hyperthyroidism Rare hypoaldosteronism Rare hypothyroidism Rare insulin-resistance syndrome Rare non surgically correctable form of primary aldosteronism Rare precocious puberty Rare primary hyperaldosteronism Rare surgically correctable form of primary aldosteronism Rare thyroid carcinoma Rare thyroid disease Rare thyroid tumor Rare urogenital disease Resistance to thyrotropin-releasing hormone syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency SERKAL syndrome SHORT syndrome SIM1-related Prader-Willi-like syndrome Semilobar holoprosencephaly Septo-optic dysplasia spectrum Septopreoptic holoprosencephaly Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Sex chromosome difference of sex development Short fifth metacarpals-insulin resistance syndrome Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short stature due to partial GHR deficiency Short stature due to primary acid-labile subunit deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-pituitary and cerebellar defects-small sella turcica syndrome Sickle cell anemia Smith-Lemli-Opitz syndrome Sporadic pheochromocytoma Sporadic pheochromocytoma/secreting paraganglioma Sporadic secreting paraganglioma Sudden infant death-dysgenesis of the testes syndrome Syndrome with 46,XX difference of sex development Syndrome with 46,XY difference of sex development Syndromic hypothyroidism Syndromic obesity Temple syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Testicular agenesis Testicular regression syndrome Tetragametic chimerism Thiamine-responsive megaloblastic anemia syndrome Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal factor Transient congenital hypothyroidism due to neonatal factor Transient neonatal diabetes mellitus Triple A syndrome Triploidy Turner syndrome Turner syndrome due to structural X chromosome anomalies Ulnar-mammary syndrome Von Hippel-Lindau disease WAGR syndrome Waterhouse-Friderichsen syndrome Wilson-Turner syndrome Wolcott-Rallison syndrome Wolfram syndrome Wolfram-like syndrome Woodhouse-Sakati syndrome X-linked adrenal hypoplasia congenita X-linked adrenoleukodystrophy X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked cerebral adrenoleukodystrophy X-linked hypophosphatemia X-linked intellectual disability with isolated growth hormone deficiency X-linked lissencephaly with abnormal genitalia XY type gonadal dysgenesis-associated anomalies syndrome Xq21 microdeletion syndrome