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Autoimmune / Autoinflammatory diseases
Bacterial infections
Behavioral and mental disorders
Blood Diseases
Chromosome Disorders
Congenital and Genetic Diseases
Connective tissue diseases
Digestive Diseases
Ear, Nose, and Throat Diseases
Endocrine Diseases
Environmental Diseases
Eye diseases
Female Reproductive Diseases
Fungal infections
Heart Diseases
Hereditary Cancer Syndromes
Immune System Diseases
Kidney and Urinary Diseases
Lung Diseases
Male Reproductive Diseases
Metabolic disorders
Mouth Diseases
Musculoskeletal Diseases
Myelodysplastic Syndromes
Nervous System Diseases
Newborn Screening
Nutritional diseases
Parasitic diseases
Rare Cancers
RDCRN
Skin Diseases
Viral infections
Male Reproductive Diseases
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
46,XX testicular disorder of sex development
48,XYYY
49, XXXXY syndrome
5-alpha reductase deficiency
ACTH-independent macronodular adrenal hyperplasia
ACTH-secreting pituitary adenoma
Addison's disease
Adrenocortical carcinoma
Adrenomyeloneuropathy
Androgen insensitivity syndrome
Androgen insensitivity syndrome, mild
Anorchia
Aromatase deficiency
Ataxia - hypogonadism - choroidal dystrophy
Autosomal recessive polycystic kidney disease
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 2
Cerebellar ataxia and hypogonadotropic hypogonadism
CHARGE syndrome
Combined pituitary hormone deficiencies, genetic forms
Complete androgen insensitivity syndrome
Congenital bilateral absence of the vas deferens
Cushing's syndrome
Cystic fibrosis
Deafness hypogonadism syndrome
Deafness-infertility syndrome
Dilated cardiomyopathy with hypergonadotropic hypogonadism
Follicle-stimulating hormone deficiency, isolated
Globozoospermia
Hansen's disease
Hydrocephalus obesity hypogonadism
Kallmann syndrome
Kallmann syndrome 1
Kartagener syndrome
Kennedy disease
Laurence-Moon syndrome
Lubinsky syndrome
Macrozoospermia
Martsolf syndrome
Myotonic dystrophy type 1
Myotonic dystrophy type 2
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
Panhypopituitarism X-linked
Partial androgen insensitivity syndrome
Persistent Müllerian duct syndrome
Postorgasmic illness syndrome
Primary ciliary dyskinesia
Primary pigmented nodular adrenocortical disease
Prostatic malacoplakia associated with prostatic abscess
Sertoli cell-only syndrome
Sickle beta thalassemia
Sickle cell anemia
Trichothiodystrophy
Woodhouse Sakati syndrome
X-linked adrenal hypoplasia congenita
X-linked cerebral adrenoleukodystrophy
Young syndrome