Properties

MORBIDMAP :NAME MM: 46XY sex reversal 2, dosage-sensitive :MORBID_ID 300018 :NUM 3 :SYM (DAX1 AHC AHX NROB1 SRXY2) :LOCUS Xp21.2 :OMIM_ID 300473 :SNP ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, GLN283TER; rs104894890 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TRP369TER; rs104894886 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, LEU263TER; rs104894887 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, ARG267PRO; rs104894888 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TRP235TER; rs104894889 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TRP171TER; rs104894891 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, ASN440ILE; rs28935481 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, GLN395TER; rs104894894 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TYR271TER; rs104894895 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TYR91TER; rs104894892 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, LYS382ASN; rs104894896 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TRP291CYS; rs28935482 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, ILE439SER; rs104894897 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TYR197TER; rs104894898 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, LEU381HIS; rs104894899 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TYR380ASP; rs104894900 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, TYR399TER; rs104894906 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, LEU297PRO; rs104894907 ADRENAL HYPOPLASIA, CONGENITAL; NR0B1, GLN37TER; rs104894908 :AAUSHIGENE ORPHAN_NUCLEAR_RECEPTOR_DAX_1