Diseases

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
Chloride diarrhea, congenital, Finnish type CLD 214700
Lactase deficiency, congenital Lactase deficiency, congenital 223000
Nephrotic syndrome, type 1 NPHS1 (CNF) 256300
Cornea plana 2 CNA2 217300
Diastrophic dysplasia DTD 222600
Familial amyloidosis, Finnish type FAF 105120
Ceroid lipofuscinosis, neuronal, 5 CLN5 256731
Ovarian dysgenesis 1 (FSH-RO) ODG1 (FSH-RO) 233300
GRACILE syndrome GRACILE 603358
Gyrate atrophy of choroid and retina GA 258870
Hydrolethalus syndrome HLS 236680
Ceroid lipofuscinosis, neuronal, 1 CLN1 256730
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MTDPS7 (IOSCA) 271245
Arthrogryposis, lethal, with anterior horn cell disease LAAHD 611890
Lethal congenital contracture syndrome 1 LCCS1 253310
Lysinuric protein intolerance LPI 222700
Meckel syndrome MKS 249000
Mulibrey nanism MUL 253250
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MDDGA3 (MEB) 253280
Ceroid lipofuscinosis, neuronal, 3 CLN3 204200
Glycine encephalopathy (Nonketotic hyperglycinemia) GCE (NKH) 605899
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy PLOSL 221770
Progressive epilepsy with mental retardation; Ceroid lipofuscinosis, neuronal, 8, (CLN8) Northern epilepsy variant EPMR 610003
Epilepsy, progressive myoclonic 1A (Unverricht-Lundborg) EPM1A 254800
RAPADILINO syndrome RAPADILINO 266280
Retinoschisis 1, X-linked, juvenile RS1 312700
Megaloblastic anemia-1, Finnish and Norwegian type MGA1 261100
Sialuria, Finnish type SD 604369
Tibial muscular dystrophy, tardive TMD 600334
Usher syndrome, type III USH3 276902



FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.