Rare disease

Boylan Dew Greco syndrome Glucocorticoid deficiency 1 glucose-galactose malabsorption glycerol kinase deficiency Glycogen storage disease type 0 Glycogen storage disease type XI MEND syndrome early-onset parkinsonism-intellectual disability syndrome Amish lethal microcephaly Meacham syndrome Czech dysplasia, metatarsal type heart-hand syndrome, Slovenian type brain-lung-thyroid syndrome infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Nestor-Guillermo progeria syndrome Wolfram-like syndrome obesity due to congenital leptin deficiency Hartsfield-Bixler-Demyer syndrome Mitchell-Riley syndrome optic atrophy-intellectual disability syndrome Lamb-Shaffer syndrome even-plus syndrome Yao syndrome gray platelet syndrome woolly hair Winchester syndrome Tay-Sachs disease Haim–Munk syndrome Alexander disease Heart valve dysplasia Seckel syndrome Antley-Bixler syndrome thrombocytopenia familial juvenile gout inflammatory breast cancer CD40 deficiency Ichthyosis with confetti Ichthyosis prematurity syndrome Il-1R–Associated kinase 4 deficiency multiple endocrine neoplasia type 2A Intersection syndrome trichotillomania isolated 17,20-lyase deficiency juvenile polyposis syndrome keratoconus pre-eclampsia Janus kinase-3 deficiency Fabry disease temporal lobe epilepsy Roberts syndrome