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 | |
SKOS |
exactMatch MIM:618666 |
Parent Relationships |
is_a sitosterolemia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |