Rare disease

cyclic vomiting syndrome myotonic dystrophy Barber-Say syndrome Mueller Weiss syndrome stuttering mycosis fungoides acromegaly Smith-McCort dysplasia cerebral salt-wasting syndrome Huntington's disease Meckel syndrome medullary cystic kidney disease Tourette syndrome 22q13 deletion syndrome hydrocephalus phenylketonuria glycogen storage disease VI Castleman's disease Cushing's disease basal ganglia calcification Fukuyama congenital muscular dystrophy proximal myotonic myopathy neuroendocrine tumor Kennedy disease Duane-radial ray syndrome chronic progressive external ophthalmoplegia hypoparathyroidism-deafness-renal disease syndrome Alpers' disease Paget's disease of bone nail-patella syndrome pneumothorax aspirin-exacerbated respiratory disease Papillon-Lefevre disease Bulbar palsy apparent mineralocorticoid excess syndrome Niemann–Pick disease, type C amyotrophic lateral sclerosis Congenital lobar emphysema Cole-Carpenter syndrome chromosome 2q32-q33 deletion syndrome progeria glutaric aciduria type 1 Silver-Russell syndrome renal-hepatic-pancreatic dysplasia salt and pepper syndrome Compton-North congenital myopathy restrictive cardiomyopathy congenital diaphragmatic hernia thoracic endometriosis syndrome Marshall–Smith syndrome