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Properties
MORBIDMAP
:NAME MM: Sveinsson choreoretinal atrophy
:MORBID_ID 108985
:NUM 3
:SYM (TEAD1 TCF13 REF1)
:LOCUS 11p15.3-p15.2
:OMIM_ID 189967
:SNP SVEINSSON CHOREORETINAL ATROPHY; TEAD1, TYR421HIS; rs11567847
:AAUSHI ATROPHY
:AAUSHIGENE TRANSCRIPTION_ENHANCER_FACTOR_TEF1