Disease Name Disease Symbol OMIM
Aspartylglucosaminuria AGU 208400
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy APECED 240300
Cartilage-hair hypoplasia CHH 250250
Choroideremia CHM 303100
Cohen syndrome COH1 216550
Congenital chloride dirrhea CLD 214700
Congenital lactase deficiency Congenital lactase deficiency 223000
Congenital nephrosis CNF 256300
Cornea plana congenita CNA2 217300
Diastrophic dysplasia DTD 222600
Familial amyloidosis, Finnish type FAF 105120
Finnish variant of late infantile neuronal ceroid lipofuscinosis CLN5 256731
FSH-resistant ovaries FSH-RO 233300
GRACILE syndrome GRACILE 603358
Gyrate atrophy of choroid and retina GA 258870
Hydrolethalus syndrome HLS 236680
Infantile neuronal ceroid lipofuscinosis CLN1 256730
Infantile onset spinocerebellar ataxia IOSCA 271245
Lethal arthrogryposis with anterior horn cell disease LAAHD 611890
Lethal congenital contracture syndrome LCCS 253310
Lysinuric protein intolerance LPI 222700
Meckel syndrome MKS 249000
Mulibrey nanism MUL 253250
Muscle-eye-brain disease MEB 253280
Neuronal ceroid lipofuscinosis, juvenile CLN3 204200
Nonketotic hyperglycinemia NKH 605899
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy PLOSL 221770
Progressive epilepsy with mental retardation EPMR 610003
Progressive myoclonus epilepsy EPM1 254800
RAPADILINO syndrome RAPADILINO 266280
Retinoschisis RS 312700
Selective intestinal malabsorption of vitamin B12 MGA1 261100
Sialic acid storage disease SD 604369
Tibial muscular dystrophy TMD 600334
Usher syndrome, type III USH3 276902