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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
Connective tissue diseases
Amyopathic dermatomyositis
Bizarre parosteal osteochondromatous proliferation
Classical Ehlers-Danlos syndrome
Dermatosparaxis Ehlers-Danlos syndrome
Ehlers-Danlos syndromes
Eosinophilic fasciitis
Legg-Calve-Perthes disease
Marfan syndrome
Melorheostosis
Melorheostosis with osteopoikilosis
Mixed connective tissue disease
Osteosclerosis with ichthyosis and premature ovarian failure
Pacman dysplasia
Paget disease of bone
- Not a rare disease
Paget disease of bone, familial
Polymyositis
Progressive deafness with stapes fixation
Rheumatoid factor-negative juvenile idiopathic arthritis
Ribbing disease
Scleroderma
- Not a rare disease
Temporomandibular ankylosis
Twenty-nail dystrophy
Vascular Ehlers-Danlos syndrome
Weill-Marchesani syndrome
Worth type autosomal dominant osteosclerosis