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Properties
MORBIDMAP
:NAME MM: Mucopolysaccharidosis Is
:MORBID_ID 607016
:NUM 3
:SYM (IDUA IDA)
:LOCUS 4p16.3
:OMIM_ID 252800
:SNP SCHEIE SYNDROME; IDUA, ARG492PRO; rs121965026
HURLER-SCHEIE SYNDROME; IDUA, LEU490PRO; rs121965027
HURLER-SCHEIE SYNDROME; IDUA, TER654GLY; rs121965028
HURLER-SCHEIE SYNDROME; IDUA, ARG89GLN; rs121965029
HURLER-SCHEIE SYNDROME; IDUA, ARG619GLY; rs121965031
HURLER-SCHEIE SYNDROME; IDUA, THR364MET; rs121965032
HURLER-SCHEIE SYNDROME; IDUA, LEU346ARG; rs121965033
:AAUSHI SCHEIE_SYNDROME
:AAUSHIGENE ALPHA_IDURONIDASE