OMIM
Db Link Name Definition Comment Is a
OMIM OMIM:617914 MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20
OMIM OMIM:617915 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS
OMIM OMIM:617916 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7
OMIM OMIM:617917 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8
OMIM OMIM:617920 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3; PLCA3
OMIM OMIM:617921 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25; ALS25
OMIM OMIM:617924 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10
OMIM OMIM:617925 SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20
OMIM OMIM:617926 OROFACIODIGITAL SYNDROME XVII; OFD17
OMIM OMIM:617927 OROFACIODIGITAL SYNDROME XVIII; OFD18
OMIM OMIM:617928 KERATOCONUS 9; KTCN9
OMIM OMIM:617929 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60
OMIM OMIM:617930 CHROMOSOME 1p35 DELETION SYNDROME
OMIM OMIM:617931 SPINOCEREBELLAR ATAXIA 47; SCA47
OMIM OMIM:617933 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61
OMIM OMIM:617935 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4
OMIM OMIM:617936 BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED
OMIM OMIM:617938 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62
OMIM OMIM:617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2
OMIM OMIM:617948 ELLIPTOCYTOSIS 3; EL3
OMIM OMIM:617950 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36
OMIM OMIM:617951 LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15
OMIM OMIM:617952 OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18
OMIM OMIM:617953 HYPERTHYROXINEMIA, EUTHYROID, CAUSED BY GENERALIZED 5-PRIME-DEIODINASE DEFICIENCY
OMIM OMIM:617954 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6