SE-ATLAS

X-linked adrenal hypoplasia congenita Pressure-induced localized lipoatrophy Genetic lipodystrophy Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Autosomal recessive infantile hypercalcemia Familial partial lipodystrophy 47,XYY syndrome Hypothyroidism due to TSH receptor mutations Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Anaplastic thyroid carcinoma Differentiated thyroid carcinoma Rare hyperthyroidism Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Addison disease Rare hypoparathyroidism McCune-Albright syndrome Adrenogenital syndrome Craniopharyngioma Aldosterone-producing adenoma Tetrasomy X Familial papillary thyroid carcinoma with renal papillary neoplasia Genetic transient congenital hypothyroidism Mosaic variegated aneuploidy syndrome 46,XX difference of sex development induced by maternal-derived androgen 48,XXYY syndrome Pentasomy X Xq12-q13.3 duplication syndrome Hyperinsulinism-hyperammonemia syndrome Familial hyperinsulinism Distal Xq28 microduplication syndrome Obesity due to congenital leptin deficiency Hyperinsulinism due to UCP2 deficiency Septo-optic dysplasia spectrum Polyostotic fibrous dysplasia Hypospadias-hypertelorism-coloboma and deafness syndrome Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Complete androgen insensitivity syndrome Diazoxide-resistant diffuse hyperinsulinism Neonatal iodine exposure Exercise-induced hyperinsulinism Transient congenital hypothyroidism due to neonatal factor Spina bifida-hypospadias syndrome Pituitary resistance to thyroid hormone Transient congenital hypothyroidism due to maternal factor Diazoxide-resistant hyperinsulinism Rare diabetes mellitus type 1 Rare insulin-resistance syndrome Paternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 1 Rare diabetes mellitus type 2 Other rare diabetes mellitus Hypertelorism-hypospadias-polysyndactyly syndrome Acute adrenal insufficiency Rare hypothyroidism Rare primary hyperaldosteronism Aromatase excess syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Primary hypergonadotropic hypogonadism-partial alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Obesity due to SIM1 deficiency Distal triplication 15q Neonatal diabetes mellitus Tetrasomy 18p Isolated growth hormone deficiency type IA Tetrasomy 9p Acquired partial lipodystrophy Léri-Weill dyschondrosteosis Localized lipodystrophy 46,XX gonadal dysgenesis Familial hypocalciuric hypercalcemia type 1 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Hypospadias-intellectual disability, Goldblatt type syndrome Denys-Drash syndrome Dysmorphism-short stature-deafness-difference of sex development syndrome PPARG-related familial partial lipodystrophy AKT2-related familial partial lipodystrophy Tetrasomy 5p Familial partial lipodystrophy, Köbberling type Acquired generalized lipodystrophy 46,XY complete gonadal dysgenesis Fibrous dysplasia of bone Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type II Congenital hyperinsulinism due to HNF4A deficiency Microduplication Xp11.22p11.23 syndrome Hyperinsulinism due to INSR deficiency Trisomy X Schilbach-Rott syndrome X-linked acrogigantism Xp21 deletion syndrome Rare disease with adrenal Cushing syndrome as a major feature Familial hyperaldosteronism type III Pituitary gigantism Maternal uniparental disomy of chromosome 13 Isolated growth hormone deficiency type III Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to CEP19 deficiency Familial partial lipodystrophy, Dunnigan type Medullary thyroid carcinoma Laurence-Moon syndrome Xq27.3q28 duplication syndrome Hypergonadotropic hypogonadism-cataract syndrome 46,XX testicular difference of sex development Maternal uniparental disomy of chromosome X Familial hyperaldosteronism type II Familial hyperaldosteronism type I Familial hypocalciuric hypercalcemia 49,XXXYY syndrome Familial hyperthyroidism due to mutations in TSH receptor Normosmic congenital hypogonadotropic hypogonadism Lower limb malformation-hypospadias syndrome Short stature due to GHSR deficiency Non-acquired premature ovarian failure Primary congenital hypothyroidism without thyroid developmental anomaly Homozygous familial hypercholesterolemia Xp22.13p22.2 duplication syndrome Cushing syndrome ACTH-independent Cushing syndrome Paternal uniparental disomy of chromosome X Congenital adrenal hyperplasia Familial hyperaldosteronism Keppen-Lubinsky syndrome Short stature due to partial GHR deficiency Congenital hypothyroidism Congenital glucokinase-related hyperinsulinism Rare female infertility due to a congenital hypogonadotropic hypogonadism Rare precocious puberty Kallmann syndrome Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Idiopathic congenital hypothyroidism Congenital hypogonadotropic hypogonadism Congenital generalized lipodystrophy Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Partial deletion of chromosome X Cushing syndrome due to ectopic ACTH secretion Isolated thyroid-stimulating hormone deficiency ACTH-dependent Cushing syndrome X and Y chromosomal anomaly Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Partial deletion of the short arm of the chromosome X Growth delay due to insulin-like growth factor type 1 deficiency Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Primary adrenal insufficiency Adrenal Cushing syndrome Autoimmune polyendocrinopathy Partial duplication of the short arm of chromosome X Partial duplication of chromosome X Uniparental disomy of chromosome X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Noonan syndrome Multiple endocrine neoplasia type 1 Congenital isolated hyperinsulinism 46,XY difference of sex development due to testicular steroidogenesis defect 46,XY difference of sex development due to isolated 17,20-lyase deficiency Opitz GBBB syndrome Rare diabetes mellitus Endogenous Cushing syndrome Chronic primary adrenal insufficiency Partial deletion of the long arm of chromosome X Pseudohypoparathyroidism type 1A Partial duplication of the long arm of chromosome X Xp22.3 microdeletion syndrome Non-acquired isolated growth hormone deficiency Laron syndrome Multiple endocrine neoplasia type 2 Albright hereditary osteodystrophy Partial androgen insensitivity syndrome Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Multiple endocrine neoplasia Multiple endocrine neoplasia type 4 46,XY difference of sex development due to testicular 17,20-desmolase deficiency Hypothalamic adipsic hypernatraemia syndrome XY type gonadal dysgenesis-associated anomalies syndrome 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Androgen insensitivity syndrome Microtriplication 11q24.1 Rare thyroid carcinoma Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal semi-dominant severe lipodystrophic laminopathy X-linked acrogigantism due to a point mutation Hyperinsulinemic hypoglycaemia Proximal Xq28 duplication syndrome 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Leydig cell hypoplasia Rare thyroid tumor Autosomal recessive hyperinsulinism due to SUR1 deficiency PLIN1-related familial partial lipodystrophy Tetrasomy 21 8p inverted duplication/deletion syndrome Maternal uniparental disomy Autosomal uniparental disomy Obesity due to prohormone convertase I deficiency Chromosome X structural anomaly X-linked acrogigantism due to Xq26 microduplication Fetal iodine syndrome Transient congenital hypothyroidism ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor Prolactinoma 46,XX difference of sex development-skeletal anomalies syndrome 46,XX difference of sex development Familial multinodular goiter Maternal uniparental disomy of chromosome 6 Temple-Syndrom bei maternaler uniparentaler Disomie von Chromosom 14 Lipodystrophien, primäre Adipositas durch Proopiomelanocortin-Mangel Adipositas durch Melanokortin-4 Rezeptor-Mangel Uniparentale Disomie, paternale Diabetes insipidus, zentraler Tetrasomie 12p Pubertät, periphere vorzeitige Multiple endokrine Neoplasie Typ 2A Multiple endokrine Neoplasie Typ 2B Rekombinantes 8-Syndrom Uniparentale Disomie 2, maternale Uniparentale Disomie 4, maternale Uniparentale Disomie 9, maternale Vorzeitige männliche Pubertät, familiäre Form Uniparentale Disomie 16, maternale Uniparentale Disomie 21, maternale Lipodystrophie durch peptidischen Wachstumsfaktormangel Uniparentale Disomie 6, paternale Uniparentale Disomie 7, paternale Akromegalie Chromosom X, kleine Ringe Familiäre juvenile Hypertrophie der Brust Adipositas, genetisch-bedingte nicht-syndromale Knochendysplasie, primäre Hypothyreose, kongenitale primäre Hypothyreose, kongenitale zentrale Uniparentale Disomie 20, maternale Uniparentale Disomie 22, maternale Uniparentale Disomie 5, paternale Uniparentale Disomie 21, paternale Uniparentale Disomie des Chromosom 20, paternale Hypothyreose, syndromale Hyperinsulinismus durch HNF1A-Mangel Cushing-Syndrom durch bilaterale makronoduläre Nebennierenhyperplasie Hypothyreose, kongenitale permanente Cushing-Krankheit Primäre pigmentierte noduläre adrenokortikale Krankheit Uniparentale Disomie 13, paternale 48,XYYY-Syndrom Hypothyreose durch Mangel von Transkriptionsfaktoren zur Entwicklung oder Funktion der Hypophyse Adenom, somatotropes Schilddrüsenkarzinom, nicht-medulläres, familiäre Form Lipodystrophie, erworbene 49,XYYYY-Syndrom Schilddrüsenlymphom Adipositas, genetisch bedingte Hypothyreose, kongenitale, durch mütterliche Einnahme von Thyreostatica Arzneimittel-induzierte lokale Lipodystrophie Lipodystrophie, zentrifugale Lokale Lipodystrophie durch Pannikulitis Lipodystrophie, lokale, idiopathische Hypogonadotroper Hypogonadismus, isolierter kongenitaler Hypogonadotroper Hypogonadismus - schwere Mikrozephalie - Sensorineurale Schwerhörigkeit - Dysmorphien Generalisierte kongenitale Lipodystrophie mit Muskeldystrophie Lipodystrophie, familiäre partielle, durch LIPE-Genmutation Kagami-Ogata-Syndrom durch paternale uniparentale Disomie von Chromosom 14 Prader-Willi-Syndrom Lipodystrophie, familiäre partielle, CIDEC-assoziierte Hypospadie, posteriore, nicht-syndromale