Genetic disease

Cousin syndrome inherited tumor Contiguous gene syndrome Cornelia de Lange syndrome coxa vara familial Mediterranean fever ossification of the posterior longitudinal ligament Wolfram syndrome Pitt-Hopkins syndrome Darwin's tubercle Native American myopathy Native American myopathy monogenic disease WHIM syndrome tricuspid atresia Pfeiffer syndrome Norman–Roberts syndrome Freeman–Sheldon syndrome gout MDR1 multiple drug sensitivity hereditary neoplastic syndromes exercise-induced collapse Congenital hepatic fibrosis sexual headache Nondisjunction intussusception spermatic cord torsion pantothenate kinase-associated neurodegeneration multiple epiphyseal dysplasia encephalopathy due to GLUT1 deficiency surfer's ear tarsal coalition thin basement membrane disease hereditary neuropathy with liability to pressure palsies sudden infant death syndrome Walker–Warburg syndrome hemoglobinopathy High altitude pulmonary edema equine polysaccharide storage myopathy cortisone reductase deficiency 1 Pretzel syndrome Inverted nipple Thickened earlobes-conductive deafness syndrome inherited metabolic disorder congenital muscular dystrophy type 1C obsessive-compulsive disorder lentigo Fuhrmann syndrome Lazy leukocyte syndrome cerebral folate receptor alpha deficiency