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Metadata
ID DOID:0060983
Name sitosterolemia 2
Definition A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21.
https://pubmed.ncbi.nlm.nih.gov/11099417/
Xrefs

MIM:618666

SKOS

exactMatch MIM:618666

Parent Relationships

is_a sitosterolemia

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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