Disease Name Disease Symbol OMIM
Aspartylglucosaminuria AGU 208400
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia APS1 240300
Cartilage-hair hypoplasia CHH 250250
Choroideremia CHM 303100
Cohen syndrome COH1 216550
Diarrhea 1, secretory chloride, congenital DIAR1 214700
Lactase deficiency, congenital LDC 223000
Nephrotic syndrome, type 1; Synonym: Finnish congenital nephrosis NPHS1 (CNF) 256300
Cornea plana 2 CNA2 217300
Diastrophic dysplasia DTD 222600
Amyloidosis, Finnish type FAF 105120
Ceroid lipofuscinosis, neuronal, 5 CLN5 256731
Ovarian dysgenesis 1 ODG1 233300
GRACILE syndrome GRACILE 603358
Gyrate atrophy of choroid and retina GACR 258870
Hydrolethalus syndrome 1 HLS1 236680
Ceroid lipofuscinosis, neuronal, 1 CLN1 256730
Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7) IOSCA (MTDPS7) 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; Synonym: Nonketotic hyperglycinemia GCE 605899
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; Synonym: Nasu-Hakola disease PLOSL 221770
Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy PEHO 260565
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; Synonyms: Northern epilepsy; Epilepsy, progressive, with mental retardation EPMR 610003
Epilepsy, progressive myoclonic 1A (Unverricht-Lundborg) EPM1A 254800
Retinoschisis 1, X-linked, juvenile RS1 312700
Megaloblastic anemia-1, Finnish and Norwegian type MGA1 261100
Sialuria, Finnish type (Salla disease) SD 604369
Tibial muscular dystrophy, tardive TMD 600334
Usher syndrome, type 3A USH3A 276902

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and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.