Rare disease

Bohring-Opitz Boomerang dysplasia Brody myopathy Brunner Syndrome sucrose intolerance Creutzfeldt-Jakob disease retinoblastoma CD25 deficiency ADan amyloidosis White-Sutton syndrome trisomy 16 Carney's triad Carvajal syndrome Cavernous venous malformation Exfoliative ichthyosis Chilblain lupus Krabbe disease clubbed thumb coenzyme Q10 deficiency disease combined immunodeficiency complement 2 deficiency complement 3 deficiency congenital secretory chloride diarrhea 1 Congenital distal spinal muscular atrophy congenital diarrhea 5 with tufting enteropathy short-rib thoracic dysplasia 9 with or without polydactyly epithelial recurrent erosion dystrophy cyclic hematopoiesis D-bifunctional protein deficiency ichthyosis dentin dysplasia aortic valve stenosis EAST syndrome EEM syndrome phaeochromocytoma Epstein–Barr virus infection infantile parkinsonism-dystonia Estrogen insensitivity syndrome CODAS syndrome Familial British dementia familial atrial fibrillation familial male-limited precocious puberty Feingold syndrome Floating-Harbor syndrome focal facial dermal dysplasia Frank–Ter Haar syndrome Frasier syndrome Tay-Sachs disease AB variant GRACILE syndrome Generalized pustular psoriasis