Diseases

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
RAPADILINO syndrome RAPADILINO 266280
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



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.