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Metadata
ID DOID:0070654
Name desmosterolosis
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.
https://pmc.ncbi.nlm.nih.gov/articles/PMC1226055/, https://pmc.ncbi.nlm.nih.gov/articles/PMC4076431/
Xrefs

GARD:10283

ICD10CM:Q87.89

MESH:C566555

MIM:602398

ORDO:35107

SNOMEDCT_US_2025_05_01:709490002

UMLS_CUI:C1865596
SKOS

exactMatch GARD:10283

exactMatch ORDO:35107

exactMatch MIM:602398

exactMatch UMLS_CUI:C1865596

exactMatch MESH:C566555

broadMatch ICD10CM:Q87.89
Parent Relationships

is_a syndromic intellectual disability

is_a lipid metabolism disorder

is_a autosomal recessive disease
Subclass Logical Relationships

has phenotype some Elevated circulating desmosterol concentration

has material basis in some autosomal recessive inheritance

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