Rare disease

pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency Quebec platelet disorder McCune–Albright syndrome Lesch–Nyhan syndrome Raine syndrome Rapp-Hodgkin syndrome retinal degeneration associated with rhodopsin mutations Reynolds syndrome Rh deficiency syndrome rocker bottom foot mitral valve prolapse Mismatch repair cancer syndrome SHORT syndrome Saal Bulas syndrome scalp–ear–nipple syndrome Scott syndrome Sensenbrenner syndrome short-chain acyl-coenzyme A dehydrogenase deficiency Skin fragility syndrome Smith–Fineman–Myers syndrome stiff skin syndrome Terminal complement pathway deficiency Andersen-Tawil syndrome specific language impairment hereditary hemorrhagic telangiectasia Tietz syndrome tooth and nail syndrome glycogen storage disease V ulnar-mammary syndrome Wilson–Turner syndrome Worth's syndrome Wrinkly skin syndrome X-linked congenital stationary night blindness X-linked intellectual disability X-linked spinal muscular atrophy type 2 Young-Simpson syndrome Yunis-Varon syndrome ZAP70 deficiency Zimmermann–Laband syndrome CHIME syndrome Behr syndrome atrial fibrillation albinism Muir-Torre syndrome age related macular degeneration ventricular septal defect aplastic anemia 5-alpha-reductase deficiency bicuspid aortic valve