| children | - 2-hydroxyglutaric aciduria 698870008
- 46,XX ovarian dysgenesis, short stature syndrome 1237345002
- 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency 783092005
- 46,XY partial gonadal dysgenesis 725045004
- 4H leukodystrophy 1208933000
- Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome 718715007
- Adrenoleukodystrophy 65389002
- Adrenomyodystrophy 763311001
- AKT2-related familial partial lipodystrophy 1197746001
- Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome 720981000
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Alstrom syndrome 63702009
- Androgen resistance syndrome 12313004
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome 720519003
- Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome 722288007
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 717045004
- Autosomal dominant hyperinsulinism due to SUR1 deficiency 717046003
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 783768006
- Autosomal recessive hyperinsulinism due to SUR1 deficiency 783767001
- Autosomal semi-dominant severe lipodystrophic laminopathy 1197747005
- Bamforth Lazarus syndrome 722375007
- Beckwith-Wiedemann syndrome 81780002
- Boucher Neuhäuser syndrome 715984007
- Carney complex 733491005
- Carney Stratakis syndrome 722377004
- Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005
- CIDEC-related familial partial lipodystrophy 1197749008
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 776204008
- Combined pituitary hormone deficiency genetic form 718182008
- Congenital adrenal hyperplasia 237751000
- Congenital adrenal hypoplasia, X-linked 237764004
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency 725462002
- Congenital isolated adrenocorticotropic hormone deficiency 1231283007
- Congenital leptin deficiency 700150001
- Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006
- Corticosteroid-binding globulin deficiency 773728004
- Cystic fibrosis of pancreas 235978006
- Deafness and hypogonadism syndrome 718714006
- Deficiency in anterior pituitary function, variable immunodeficiency syndrome 773664005
- Deficiency of leukotriene C4 synthase 717185008
- Diabetes mellitus associated with cystic fibrosis 426705001
- Diabetes mellitus autosomal dominant type II 237604008
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 783741006
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 783740007
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome 719451006
- Dyshormonogenic goiter 190304001
- Endocrine-cerebro-osteodysplasia syndrome 723309006
- Exercise-induced hyperinsulinism 715830008
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone 782917007
- Familial adrenocortical hypoplasia 37495007
- Familial hyperaldosteronism type 1 703232003
- Familial hyperprolactinemia 763715007
- Familial hypoaldosteronism 715343000
- Familial infantile gigantism 773645004
- Familial isolated hyperparathyroidism 786037006
- Familial isolated hypoparathyroidism 725036000
- Familial isolated pituitary adenoma 702375004
- Familial male-limited precocious puberty 725295005
- Familial multinodular goiter syndrome 1279836009
- Familial non-autoimmune autosomal dominant hyperthyroidism 716743006
- Familial nonmedullary primary thyroid carcinoma 786038001
- Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome 716657000
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency 1187040004
- Familial thyroid dyshormonogenesis 718183003
- Frontonasal dysplasia with alopecia and genital anomaly syndrome 725029001
- GCGR-related hyperglucagonemia 1228875006
- Hereditary adrenal unresponsiveness to corticotropin 71974009
- Hereditary benign acanthosis nigricans with insulin resistance 237606005
- Hereditary breast and ovarian cancer syndrome 718220008
- Hereditary glucocorticoid resistance 715402001
- Hereditary growth hormone deficiency 1186807002
- Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland 717897007
- Hereditary isolated hypoparathyroidism due to impaired parathormone secretion 717898002
- Hereditary nephrogenic diabetes insipidus 61165007
- Hereditary pancreatitis 68072000
- Heterozygous methylenetetrahydrofolate reductase mutation 139821000119102
- Homozygous methylenetetrahydrofolate reductase mutation 139811000119109
- Hydrocephalus with obesity and hypogonadism syndrome 721231007
- Hyperandrogenism due to cortisone reductase deficiency 783696009
- Hypergonadotropic hypogonadism with cataract syndrome 721233005
- Hyperinsulinism and hyperammonemia syndrome 718106009
- Hyperinsulinism due to deficiency of glucokinase 717182006
- Hyperinsulinism due to HNF1A deficiency 721234004
- Hyperinsulinism due to HNF4A deficiency 717048002
- Hyperinsulinism due to insulin receptor deficiency 721235003
- Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency 721236002
- Hyperinsulinism due to uncoupling protein 2 deficiency 721834007
- Hyperparathyroidism-jaw tumor syndrome 702378002
- Hyperproinsulinemia 237613005
- Hypogonadism with prune belly syndrome 236796004
- Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 237616002 removed: 2022-11-30
- Hypogonadotropic hypogonadism retinitis pigmentosa syndrome 733113002
- Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome 721842008
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypoinsulinemic hypoglycemia and body hemihypertrophy 773666007
- Hypomagnesemia with secondary hypocalcemia 711151004
- Hypoparathyroidism, deafness, renal disease syndrome 724282009
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome 773673002
- Hypothyroidism due to mutation in transcription factor of pituitary development 718194004
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Inherited disorder of thyroid metabolism 36985004
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 764960005
- Insulin resistance - type A 237651005
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome 1197592001
- Isolated follicle stimulating hormone deficiency 758664007
- Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome 1255271005
- Kallman syndrome with heart disease 722027009
- Leprechaunism syndrome 111307005
- Leydig cell agenesis 56212008
- LIPE-related familial partial lipodystrophy 1197751007
- Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome 721977007
- Lymphedema hypoparathyroidism syndrome 721083007
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- Martsolf syndrome 722380003
- Maternally inherited diabetes and deafness 237619009
- Maturity onset diabetes of the young, type 1 609562003
- Maturity-onset diabetes of the young, type 10 609577006
- Maturity-onset diabetes of the young, type 11 609578001
- Maturity-onset diabetes of the young, type 3 609570008
- Maturity-onset diabetes of the young, type 5 609572000
- Maturity-onset diabetes of the young, type 8 609575003
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 237617006
- Microcephalic primordial dwarfism, insulin resistance syndrome 1220596009
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome 733092009
- MIRAGE syndrome 1234831009
- Moderate steroid 21-hydroxylase deficiency 60045007
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome 724097003
- Multinodular goiter, cystic kidney, polydactyly syndrome 723409007
- Multiple endocrine neoplasia, type 2 61808009
- Multiple endocrine neoplasia, type 2b 61530001
- Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 237611007
- Nephropathy, deafness, hyperparathyroidism syndrome 724093004
- Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome 771308008
- Obesity due to leptin receptor gene deficiency 785722006
- Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009
- Ovarioleukodystrophy 1156768008
- Pancreatic colipase deficiency 69478001
- Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome 722206009
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome 722207000
- Pancreatic triacylglycerol lipase deficiency 78960005
- Partial pancreatic agenesis 719044008
- Perilipin 1 related familial partial lipodystrophy 783616005
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006
- Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction 237612000
- Polyendocrine polyneuropathy syndrome 1260449002
- Polyglandular autoimmune syndrome, type 1 11244009
- PPARG-related familial partial lipodystrophy 1197745002
- Primary hyperaldosteronism, seizures, neurological abnormalities syndrome 789063000
- Primary hypergonadotropic hypogonadism and partial alopecia syndrome 719275009
- Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency 724275005
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome 782825008
- Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome 782755007
- Primary pigmented nodular adrenocortical disease 719274008
- Progressive cerebellar ataxia with hypogonadism 230240004
- Pseudohypoaldosteronism, type 1, dominant form 85880000
- Pseudohypoaldosteronism, type 1, recessive form 91180009
- Pseudohypoparathyroidism type 1C 717792007
- Pseudohypoparathyroidism type I A 58833000
- Pseudoprimary hyperaldosteronism 707747007
- Pyridoxal 5-phosphate dependent epilepsy 724576005
- Pyridoxine-dependent epilepsy 734434007
- Renal hepatic pancreatic dysplasia 763891005
- Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta 1260241001
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005
- Retinohepatoendocrinologic syndrome 724000006
- RHYNS syndrome 723999009
- Sanjad Sakati syndrome 1197148005
- Scholte syndrome 722002002
- Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome 722114007
- SERKAL syndrome 723720008
- Severe steroid 21-hydroxylase deficiency 15991002
- Short stature due to growth hormone secretagogue receptor deficiency 766817004
- Short stature with delayed bone age due to thyroid hormone metabolism deficiency 763890006
- Short stature, pituitary and cerebellar defect and small sella turcica syndrome 721072003
- Shwachman syndrome 89454001
- Sotos' syndrome 75968004
- Spastic paraplegia with precocious puberty syndrome 732958004
- Stimmler syndrome 733072002
- Syndrome of apparent mineralocorticoid excess 237770005
- Syndromic X-linked intellectual disability type 7 719160009
- Thymic, renal, anal, lung dysplasia syndrome 723555007
- Thyrocerebrorenal syndrome 733096007
- WNT4 Mullerian aplasia and ovarian dysfunction 699275001
- Wolfram syndrome 70694009
- Wolfram-like syndrome 734022008
- Woodhouse Sakati syndrome 816067005
- X-linked central congenital hypothyroidism with late-onset testicular enlargement 771510006
- X-linked hypoparathyroidism 237655001
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome 724276006
- X-linked intellectual disability Cilliers type 719013004
- X-linked intellectual disability Van Esch type 718914002
- X-linked intellectual disability with acromegaly and hyperactivity syndrome 719826004
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome 765471005
- X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009
- X-linked panhypopituitarism 237683004
- Xp21 deletion syndrome 1295529002
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