You are using an outdated browser. Please upgrade your browser to improve your experience.

lathosterolosis

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Uniprot Description Autosomal recessive disorder characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease.
Mondo Term and Equivalent IDs
MONDO:0011816:  lathosterolosis
GARD:0009711: 
MESH:C537880: 
Orphanet:46059: 
SCTID:719257008: 
UMLS:C1846421: