Female Reproductive Diseases

11-beta-hydroxylase deficiency
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
47 XXX syndrome
5-alpha reductase deficiency
Achard Thiers syndrome
Acro-pectoro-renal field defect
Acromegaly
ACTH-independent macronodular adrenal hyperplasia
ACTH-secreting pituitary adenoma
Acute fatty liver of pregnancy
Addison's disease
Adrenocortical carcinoma
Alpha-thalassemia x-linked intellectual disability syndrome
Aromatase deficiency
Aromatase excess syndrome
Asherman's syndrome
Ataxia - hypogonadism - choroidal dystrophy
Ataxia telangiectasia
Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 2
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 2
Becker nevus syndrome
Benign mesonephroma
BRCA1 hereditary breast and ovarian cancer syndrome
BRCA2 hereditary breast and ovarian cancer syndrome
Campomelic dysplasia
Cerebellar ataxia and hypogonadotropic hypogonadism
CHARGE syndrome
Combined pituitary hormone deficiencies, genetic forms
Complete androgen insensitivity syndrome
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Currarino triad
Cushing's syndrome
Denys-Drash syndrome
Diabetic mastopathy
Diethylstilbestrol syndrome
Extramammary Paget disease
Familial breast cancer - Not a rare disease
Follicle-stimulating hormone deficiency, isolated
Fowler's syndrome
Frasier syndrome
Galactokinase deficiency
Granulomatous lobular mastitis
Hand foot uterus syndrome
HELLP syndrome
Hydatidiform mole
Intrahepatic cholestasis of pregnancy
Kallmann syndrome
Kallmann syndrome 1
Laurence-Moon syndrome
Limb-mammary syndrome
Lynch syndrome - Not a rare disease
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
Martsolf syndrome
McCune-Albright syndrome
Meacham Winn Culler syndrome
Metaplastic carcinoma of the breast
MPI-CDG (CDG-Ib)
MURCS association
Obesity due to congenital leptin deficiency
Ovarian carcinosarcoma
Paget disease of the breast
PAGOD syndrome
Panhypopituitarism X-linked
Partial androgen insensitivity syndrome
Peripartum cardiomyopathy
Perrault syndrome
Poland syndrome
Polycystic ovarian syndrome - Not a rare disease
Primary pigmented nodular adrenocortical disease
Pruritic urticarial papules plaques of pregnancy
Rare adenocarcinoma of the breast
Satoyoshi syndrome
Scalp ear nipple syndrome
Schaaf-Yang syndrome
Sickle beta thalassemia
Sickle cell anemia
Spondyloepiphyseal dysplasia tarda X-linked
Swyer syndrome
Tetrasomy X
Ulnar-mammary syndrome
Uterine Carcinosarcoma
WAGR syndrome
Woodhouse Sakati syndrome
X-linked adrenal hypoplasia congenita