Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070654 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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