11-beta-hydroxylase deficiency
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
18 Hydroxylase deficiency
22q11.2 deletion syndrome
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
46,XX testicular disorder of sex development
47 XXX syndrome
48,XXXY syndrome
49, XXXXY syndrome
5-alpha reductase deficiency
Abetalipoproteinemia
Acquired generalized lipodystrophy
Acromegaly
ACTH-independent macronodular adrenal hyperplasia
ACTH-secreting pituitary adenoma
Addison's disease
Adrenocortical carcinoma
Adrenomyeloneuropathy
Adrenomyodystrophy
Ahumada Del Castillo syndrome
Allan-Herndon-Dudley syndrome
Alpha-thalassemia x-linked intellectual disability syndrome
Alström syndrome
Anorchia
Arachnoid cysts
AREDYLD
Aromatase deficiency
Aromatase excess syndrome
Ataxia - hypogonadism - choroidal dystrophy
Ataxia telangiectasia
Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 2
Autoimmune polyglandular syndrome type 3
Axenfeld-Rieger syndrome
Ayazi syndrome
Bamforth syndrome
Bangstad syndrome
Barakat syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 2
Barraquer-Simons syndrome
Beta-thalassemia
Borjeson-Forssman-Lehmann syndrome
Brain-lung-thyroid syndrome
Campomelic dysplasia
Carney complex
Carney triad
Carpenter syndrome
Central nervous system germinoma
Cerebellar ataxia and hypogonadotropic hypogonadism
Cerebrotendinous xanthomatosis
CHARGE syndrome
Cholesteryl ester storage disease
Chordoma
Chylomicron retention disease
Coffin-Lowry syndrome
Cohen syndrome
Combined pituitary hormone deficiencies, genetic forms
Complete androgen insensitivity syndrome
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 2 - See
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 4
Corticosteroid-binding globulin deficiency
Craniopharyngioma
Culler-Jones syndrome
Cushing's syndrome
Dahlberg Borer Newcomer syndrome
Deafness hypogonadism syndrome
Dentatorubral-pallidoluysian atrophy
Denys-Drash syndrome
Diencephalic syndrome
Dilated cardiomyopathy with hypergonadotropic hypogonadism
Epiphyseal dysplasia multiple with early-onset diabetes mellitus
Familial chylomicronemia syndrome
Familial glucocorticoid deficiency
Familial HDL deficiency
Familial hyperaldosteronism type 2
Familial hyperaldosteronism type III
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial LCAT deficiency
Familial lipoprotein lipase deficiency
Familial partial lipodystrophy associated with PLIN1 mutations - See
Familial partial lipodystrophy
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations - See
Familial partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type Köbberling
Familial thyroglossal duct cyst
Fish-eye disease
Follicle-stimulating hormone deficiency, isolated
Fragile X syndrome
Frasier syndrome
Galactokinase deficiency
Genito palato cardiac syndrome
Gigantism
Glucocorticoid-remediable aldosteronism
Goblet cell carcinoid
Granulomatous hypophysitis
Graves disease
- Not a rare disease
Growth hormone deficiency
Hepatic lipase deficiency
Hereditary hyperekplexia
Hereditary pancreatitis
Hereditary paraganglioma-pheochromocytoma
Histiocytosis-lymphadenopathy plus syndrome
Holoprosencephaly
Hydrocephalus obesity hypogonadism
Hyperadrenalism
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperlipidemia type 3
Hyperlipoproteinemia type 5
Hyperparathyroidism-jaw tumor syndrome
Hypocalcemia, autosomal dominant
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Hypoparathyroidism
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypophosphatemic rickets
Hypopituitarism
IMAGe syndrome
Immunodysregulation, polyendocrinopathy and enteropathy X-linked
Insulin-like growth factor 1 resistance to
Insulin-like growth factor I deficiency
Insulin-resistance type B
Iodine antenatal exposure
Isolated ACTH deficiency
Isolated growth hormone deficiency type 1A
Isolated growth hormone deficiency type 3
Johanson-Blizzard syndrome
Kallmann syndrome
Kallmann syndrome 1
Kearns-Sayre syndrome
Kenny-Caffey syndrome type 1
Kenny-Caffey syndrome type 2
Kowarski syndrome
Langerhans cell histiocytosis
Laron syndrome
Laurence-Moon syndrome
LCHAD deficiency
Leprechaunism
Li-Fraumeni syndrome
LIPE-related familial partial lipodystrophy - See
Familial partial lipodystrophy
Lipodystrophy, familial partial, type 5 - See
Familial partial lipodystrophy
LRBA deficiency
Lubinsky syndrome
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Martsolf syndrome
Maternally inherited diabetes and deafness
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 1 - See
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 2 - See
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 3 - See
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 4 - See
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 5 - See
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 6 - See
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 7 - See
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 8 - See
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 9 - See
Maturity-onset diabetes of the young
McCune-Albright syndrome
Meacham Winn Culler syndrome
MEHMO syndrome
Meningioma
Merkel cell carcinoma
Microcephalic osteodysplastic primordial dwarfism type 2
Mitochondrial myopathy with diabetes
MOMO syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Myotonic dystrophy type 1
Myotonic dystrophy type 2
Neonatal adrenoleukodystrophy
Neonatal progeroid syndrome
Neonatal severe hyperparathyroidism
Noonan syndrome
Noonan syndrome 1 - See
Noonan syndrome
Noonan syndrome 2 - See
Noonan syndrome
Noonan syndrome 3 - See
Noonan syndrome
Noonan syndrome 4 - See
Noonan syndrome
Noonan syndrome 5 - See
Noonan syndrome
Noonan syndrome 6 - See
Noonan syndrome
Obesity due to congenital leptin deficiency
Optic pathway glioma
PAGOD syndrome
Pallister-Hall syndrome
Panhypopituitarism X-linked
Papillary thyroid carcinoma
Paraganglioma and gastric stromal sarcoma
Parathyroid carcinoma
Partial androgen insensitivity syndrome
Pearson syndrome
Pendred syndrome
Peripheral resistance to thyroid hormones
Permanent neonatal diabetes mellitus
Perrault syndrome
Persistent Müllerian duct syndrome
Pheochromocytoma
Pituitary hormone deficiency, combined 4
Pituitary stalk interruption syndrome
Primary hyperaldosteronism
- Not a rare disease
Primary hyperparathyroidism
Primary pigmented nodular adrenocortical disease
Progressive encephalomyelitis with rigidity and myoclonus
Prolactinoma
Proopiomelanocortin deficiency
Pseudohypoparathyroidism
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
Pseudopseudohypoparathyroidism
Rabson-Mendenhall syndrome
Sarcoidosis
- Not a rare disease
Satoyoshi syndrome
Schaaf-Yang syndrome
Septo-optic dysplasia spectrum
SERKAL syndrome
Sheehan syndrome
SHORT syndrome
Sickle beta thalassemia
Sickle cell anemia
Sitosterolemia
Small cell carcinoma of the bladder
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Stiff person syndrome
Sudden infant death with dysgenesis of the testes syndrome
Swyer syndrome
Syndromic microphthalmia, type 3
Tangier disease
Temple syndrome
Testotoxicosis
Tetrasomy X
Thiamine responsive megaloblastic anemia syndrome
Thyroid dysgenesis
Thyrotropin deficiency, isolated
Transient neonatal diabetes mellitus
Triple A syndrome
Triploidy
Ulnar-mammary syndrome
VIPoma
Von Hippel-Lindau disease
WAGR syndrome
Waterhouse–Friderichsen syndrome
Wilson-Turner syndrome
Wolfram syndrome
Wolman disease
Woodhouse Sakati syndrome
X-linked adrenal hypoplasia congenita
X-linked cerebral adrenoleukodystrophy
X-linked hypophosphatemia
X-linked lissencephaly with abnormal genitalia
Yorifuji Okuno syndrome
Zollinger-Ellison syndrome
