Rare disease

cold-induced sweating syndrome Laurence-Moon syndrome Lev's disease Weill-Marchesani syndrome spastic quadriplegia maple syrup urine disease parathyroid carcinoma alveolar soft part sarcoma congenital stromal corneal dystrophy congenital hereditary endothelial dystrophy of cornea epithelial basement membrane dystrophy Thiel-Behnke corneal dystrophy Schnyder corneal dystrophy gelatinous drop-like corneal dystrophy posterior polymorphous corneal dystrophy arterial tortuosity syndrome fleck corneal dystrophy acute intermittent porphyria acute interstitial pneumonitis microvillus inclusion disease microcephaly Weaver syndrome Hereditary persistence of fetal hemoglobin Senior-Loken syndrome Galloway-Mowat syndrome macular corneal dystrophy lattice corneal dystrophy Blau syndrome Dent disease Dent disease slipped capital femoral epiphysis hereditary spastic paraplegia 23 Abruzzo–Erickson syndrome acute fatty liver of pregnancy Allan-Herndon-Dudley syndrome complete androgen insensitivity syndrome alveolar capillary dysplasia lung cancer Aromatase deficiency aromatase excess syndrome auditory neuropathy Bart syndrome Bart-Pumphrey syndrome benign familial infantile epilepsy benign familial neonatal epilepsy Kenny-Caffey syndrome immunodeficiency 26 Bainbridge Ropers Syndrome bile acid malabsorption Bjornstad syndrome