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desmosterolosis

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
Uniprot Description Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.
Mondo Term and Equivalent IDs
MONDO:0011217:  desmosterolosis
GARD:0010283: 
MESH:C566555: 
Orphanet:35107: 
SCTID:709490002: 
UMLS:C1865596: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found