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 — — —