domingo, 27 de enero de 2019

Female Reproductive Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Female Reproductive Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

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 
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 
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 
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 
Wolffian tumor 
Woodhouse Sakati syndrome 
X-linked adrenal hypoplasia congenita 

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