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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
Lung Diseases
Acropectorovertebral dysplasia F form
Acute interstitial pneumonia
Allergic bronchopulmonary aspergillosis
Alpha-1 antitrypsin deficiency
Alveolar capillary dysplasia
Arterial tortuosity syndrome
Asbestosis
Autoimmune pulmonary alveolar proteinosis
Beryllium disease
Birt-Hogg-Dube syndrome
Blau syndrome
Brain-lung-thyroid syndrome
Bronchiolitis obliterans
Bronchiolitis obliterans organizing pneumonia
Bronchogenic cyst
Bronchopulmonary dysplasia
Cantu syndrome
Catamenial pneumothorax
Children's interstitial lung disease
Chronic granulomatous disease
Chronic thromboembolic pulmonary hypertension
Classical-like Ehlers-Danlos syndrome
Coal worker's pneumoconiosis
Congenital diaphragmatic hernia
Congenital lobar emphysema
Congenital pulmonary alveolar proteinosis
Congenital pulmonary lymphangiectasia
Congenital tracheomalacia
Cornelia de Lange syndrome
Costocoracoid ligament congenitally short
Cranioectodermal dysplasia
Cryoglobulinemic vasculitis
Cryptogenic organizing pneumonia
Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type 1
Cystic fibrosis
Cystic medial necrosis of aorta
Diffuse cutaneous systemic sclerosis
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Diffuse panbronchiolitis
Donnai-Barrow syndrome
Eisenmenger syndrome
Ellis-Van Creveld syndrome
Emanuel syndrome
Enthesitis-related juvenile idiopathic arthritis
Eosinophilic granulomatosis with polyangiitis
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial thoracic aortic aneurysm and aortic dissection
Familial thyroglossal duct cyst
Feingold syndrome
Fetal akinesia deformation sequence
Fibrosing mediastinitis
Froster-Huch syndrome
Game Friedman Paradice syndrome
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Geroderma osteodysplastica
Goodpasture syndrome
Granulomatosis with polyangiitis
Hashimoto-Pritzker syndrome
Hemangiomatosis, familial pulmonary capillary
Henoch-Schonlein purpura
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Idiopathic acute eosinophilic pneumonia
Idiopathic pulmonary fibrosis
Idiopathic pulmonary hemosiderosis
Intrahepatic cholestasis of pregnancy
Jeune syndrome
Juvenile dermatomyositis
Juvenile polymyositis
Kabuki syndrome
Kaolin pneumoconiosis
Kartagener syndrome
Laryngoonychocutaneous syndrome - See
Epidermolysis bullosa
Lethal congenital contracture syndrome 1
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Loeys-Dietz syndrome
Loeys-Dietz syndrome type 1
Loeys-Dietz syndrome type 2
Loeys-Dietz syndrome type 3
Loeys-Dietz syndrome type 4
Lung agenesis
Lymphangioleiomyomatosis
Manouvrier syndrome
Meconium aspiration syndrome
Microphthalmia syndromic 9
Microscopic polyangiitis
Mixed connective tissue disease
Mounier-Kuhn syndrome
Multifocal fibrosclerosis
Multisystemic smooth muscle dysfunction syndrome
Niemann-Pick disease type B
Nocardiosis
Nontuberculous mycobacterial lung disease
Occipital horn syndrome
Orofaciodigital syndrome 4
PAGOD syndrome
Pallister-Killian mosaic syndrome
Pentalogy of Cantrell
Peroxisomal biogenesis disorders
Pleuroparenchymal fibroelastosis
Primary ciliary dyskinesia
Psoriatic juvenile idiopathic arthritis
Pulmonary alveolar microlithiasis
Pulmonary sequestration
Pulmonary venoocclusive disease
Recurrent respiratory papillomatosis
Respiratory distress syndrome, infant
Sarcoidosis
- Not a rare disease
SCARF syndrome
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome type 4
Short rib-polydactyly syndrome, Majewski type
Silicosis
Simpson-Golabi-Behmel syndrome
Sprengel deformity
Sudden infant death with dysgenesis of the testes syndrome
Systemic onset juvenile idiopathic arthritis
Thoracic dysplasia hydrocephalus syndrome
Thoracolaryngopelvic dysplasia
Tracheal agenesis
Tracheobronchomalacia
Tracheobronchopathia osteoplastica
Vascular Ehlers-Danlos syndrome
Wolf-Hirschhorn syndrome
Wrinkly skin syndrome
Yellow nail syndrome
Young syndrome