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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
Hereditary Cancer Syndromes
BRCA1 hereditary breast and ovarian cancer syndrome
BRCA2 hereditary breast and ovarian cancer syndrome
Cowden syndrome
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Duodenal carcinoid syndrome
Endolymphatic sac tumor
Familial adenomatous polyposis
Familial isolated pituitary adenoma
Gardner syndrome
Hereditary diffuse gastric cancer
Hirschsprung disease ganglioneuroblastoma
Langerhans cell histiocytosis
Li-Fraumeni syndrome
Lynch syndrome
- Not a rare disease
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
MYH-associated polyposis
Oslam syndrome
Paraneoplastic Neurologic Disorders
Perlman syndrome
Pheochromocytoma
Pheochromocytoma-islet cell tumor syndrome
Premature aging Okamoto type
Stewart Treves syndrome
Von Hippel-Lindau disease
WAGR syndrome