SE-ATLAS

46,XX difference of sex development 46,XX difference of sex development induced by maternal-derived androgen 46,XX difference of sex development-skeletal anomalies syndrome 46,XX gonadal dysgenesis 46,XX testicular difference of sex development 46,XY complete gonadal dysgenesis 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 isolated 17,20-lyase deficiency 46,XY difference of sex development due to testicular 17,20-desmolase deficiency 46,XY difference of sex development due to testicular steroidogenesis defect 47,XYY syndrome 48,XXYY syndrome 48,XYYY syndrome 49,XXXYY syndrome 49,XYYYY syndrome 8p inverted duplication/deletion syndrome ACTH-dependent Cushing syndrome ACTH-independent Cushing syndrome ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor AKT2-related familial partial lipodystrophy Acquired generalized lipodystrophy Acquired lipodystrophy Acquired partial lipodystrophy Acromegaly Acute adrenal insufficiency Addison disease Adrenal Cushing syndrome Adrenogenital syndrome Albright hereditary osteodystrophy Aldosterone-producing adenoma Anaplastic thyroid carcinoma Androgen insensitivity syndrome Aromatase excess syndrome Autoimmune polyendocrinopathy Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal recessive hyperinsulinism due to SUR1 deficiency Autosomal recessive infantile hypercalcemia Autosomal semi-dominant severe lipodystrophic laminopathy Autosomal uniparental disomy CIDEC-related familial partial lipodystrophy Central congenital hypothyroidism Central diabetes insipidus Centrifugal lipodystrophy Chromosome X structural anomaly Chronic primary adrenal insufficiency Complete androgen insensitivity syndrome Congenital adrenal hyperplasia Congenital generalized lipodystrophy Congenital glucokinase-related hyperinsulinism Congenital hyperinsulinism due to HNF4A deficiency Congenital hypogonadotropic hypogonadism Congenital hypothyroidism Congenital hypothyroidism due to maternal intake of antithyroid drugs Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Congenital isolated hyperinsulinism Craniopharyngioma Cushing disease Cushing syndrome Cushing syndrome due to bilateral macronodular adrenocortical disease Cushing syndrome due to ectopic ACTH secretion Denys-Drash syndrome Diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant hyperinsulinism Differentiated thyroid carcinoma Distal Xq28 microduplication syndrome Distal triplication 15q Drug-induced localized lipodystrophy Dysmorphism-short stature-deafness-difference of sex development syndrome Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Endogenous Cushing syndrome Exercise-induced hyperinsulinism Familial hyperaldosteronism Familial hyperaldosteronism type I Familial hyperaldosteronism type II Familial hyperaldosteronism type III Familial hyperinsulinism Familial hyperthyroidism due to mutations in TSH receptor Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial juvenile hypertrophy of the breast Familial multinodular goiter Familial nonmedullary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial partial lipodystrophy Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial peripheral male-limited precocious puberty Fetal iodine syndrome Fibrous dysplasia of bone Generalized congenital lipodystrophy with myopathy Genetic lipodystrophy Genetic non-syndromic obesity Genetic obesity Genetic transient congenital hypothyroidism Growth delay due to insulin-like growth factor type 1 deficiency Homozygous familial hypercholesterolemia Hypergonadotropic hypogonadism-cataract syndrome Hyperinsulinemic hypoglycaemia Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to UCP2 deficiency Hyperinsulinism-hyperammonemia syndrome Hypertelorism-hypospadias-polysyndactyly syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypospadias-hypertelorism-coloboma and deafness syndrome Hypospadias-intellectual disability, Goldblatt type syndrome Hypothalamic adipsic hypernatraemia syndrome Hypothyroidism due to TSH receptor mutations Hypothyroidism due to deficient transcription factors involved in pituitary development or function Idiopathic congenital hypothyroidism Idiopathic localized lipodystrophy Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Isolated congenital hypogonadotropic hypogonadism 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 thyroid-stimulating hormone deficiency Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Kallmann syndrome Keppen-Lubinsky syndrome LIPE-related familial partial lipodystrophy Laron syndrome Laurence-Moon syndrome Leydig cell hypoplasia Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Lipodystrophy due to peptidic growth factors deficiency Localized lipodystrophy Lower limb malformation-hypospadias syndrome Léri-Weill dyschondrosteosis Maternal uniparental disomy Maternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 16 Maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 21 Maternal uniparental disomy of chromosome 22 Maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 6 Maternal uniparental disomy of chromosome 9 Maternal uniparental disomy of chromosome X McCune-Albright syndrome Medullary thyroid carcinoma Microduplication Xp11.22p11.23 syndrome Microtriplication 11q24.1 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Mosaic variegated aneuploidy syndrome 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 Neonatal diabetes mellitus Neonatal iodine exposure Non-acquired isolated growth hormone deficiency Non-acquired premature ovarian failure Non-syndromic posterior hypospadias Noonan syndrome 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 Opitz GBBB syndrome Other rare diabetes mellitus PLIN1-related familial partial lipodystrophy PPARG-related familial partial lipodystrophy Panniculitis-induced localized lipodystrophy Partial androgen insensitivity syndrome Partial deletion of chromosome X Partial deletion of the long arm of chromosome X Partial deletion of the short arm of the chromosome X Partial duplication of chromosome X Partial duplication of the long arm of chromosome X Partial duplication of the short arm of chromosome X Paternal uniparental disomy Paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 13 Paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of chromosome X Pentasomy X Permanent congenital hypothyroidism Pituitary gigantism Pituitary resistance to thyroid hormone Polyostotic fibrous dysplasia Pressure-induced localized lipoatrophy Primary adrenal insufficiency Primary bone dysplasia Primary congenital hypothyroidism Primary congenital hypothyroidism without thyroid developmental anomaly Primary hypergonadotropic hypogonadism-partial alopecia syndrome Primary lipodystrophy Primary pigmented nodular adrenocortical disease Prolactinoma Proximal Xq28 duplication syndrome Pseudohypoparathyroidism type 1A Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 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 female infertility due to a congenital hypogonadotropic hypogonadism Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Rare female infertility due to a congenital hypogonadotropic hypogonadism Rare hyperthyroidism Rare hypoparathyroidism Rare hypothyroidism Rare insulin-resistance syndrome Rare peripheral precocious puberty Rare precocious puberty Rare primary hyperaldosteronism Rare thyroid carcinoma Rare thyroid tumor Recombinant 8 syndrome Schilbach-Rott syndrome Septo-optic dysplasia spectrum Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Short stature due to GHSR deficiency Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short stature due to partial GHR deficiency Somatotropic adenoma Spina bifida-hypospadias syndrome Syndromic hypothyroidism Temple syndrome due to maternal uniparental disomy of chromosome 14 Tetrasomy 12p Tetrasomy 18p Tetrasomy 21 Tetrasomy 5p Tetrasomy 9p Tetrasomy X Thyroid lymphoma Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal factor Transient congenital hypothyroidism due to neonatal factor Trisomy X Uniparental disomy of chromosome X X and Y chromosomal anomaly X small rings X-linked acrogigantism X-linked acrogigantism due to Xq26 microduplication X-linked acrogigantism due to a point mutation X-linked adrenal hypoplasia congenita XY type gonadal dysgenesis-associated anomalies syndrome Xp21 deletion syndrome Xp22.13p22.2 duplication syndrome Xp22.3 microdeletion syndrome Xq12-q13.3 duplication syndrome Xq27.3q28 duplication syndrome