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Birt-Hogg-Dubé Syndrome patients, families, and caregivers are encouraged to join the NIH Rare Lung Diseases Consortium Contact Registry. This is a privacy-protected site that provides up-to-date information for individuals interested in the latest scientific news, trials, and treatments related to rare lung diseases.
ACD is a rare disease. As of 2011, about 100 cases had been reported. It is likely an under-recognized cause of death shortly after birth because diagnosis requires microscopic examination of lung tissue or specialized genetic testing, or death can be attributed to severe heart or intestinal congenital abnormalities which frequently occur in ACD.
Childhood interstitial lung disease, sometimes abbreviated as ChILD, is a family of rare chronic and complex disorders that affect the lungs of children. [1] In the lungs, these disorders affect the interstitium, which is the space around the alveoli. The alveoli are the air sacs of the lungs. [2]
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Charcot–Marie–Tooth disease type 1D CMT1E Charcot–Marie–Tooth disease type 1E CMT1F Charcot–Marie–Tooth disease type 1F CMT1X Charcot–Marie–Tooth disease type 1X CMT2 Charcot–Marie–Tooth disease type 2 COFS Cerebro-oculo-facio-skeletal syndrome: COLD Chronic obstructive lung disease: COPD Chronic obstructive pulmonary disease
Pulmonary Alveolar Microlithiasis patients, families, and caregivers are encouraged to join the NIH Rare Lung Diseases Consortium Contact Registry. This is a privacy protected site that provides up-to-date information for individuals interested in the latest scientific news, trials, and treatments related to rare lung diseases. [citation needed]
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
The following is a timeline of the Rare Diseases Clinical Research Network: As a result of the Rare Diseases Act of 2002, on February 27, 2003, the ORDR (in conjunction with the National Center for Research Resources (NCRR), the General Clinical Research Consortium (GCRC) Program, and other NIH Institutes) requested applications for a Rare Diseases Clinical Research Network.