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Disease Ontology Browser
desmosterolosis (DOID:0070654)
Alliance: disease page
Alt IDs: OMIM:602398, ICD10CM:Q87.89, MESH:C566555, ORDO:35107, UMLS_CUI:C1865596
Definition: A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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10/07/2025
MGI 6.24 		The Jackson Laboratory