desmosterolosis

Term ID

DOID:0070654

Synonyms

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. (2)

References

• GARD:10283
• ICD10CM:Q87.89
• MESH:C566555
• MIM:602398
• ORDO:35107
• SNOMEDCT_US_2025_05_01:709490002
• UMLS_CUI:C1865596

Ontology

Human Disease   ( DOID:0070654 )