has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of SC5D cholesterol biosynthetic process via lathosterol lathosterolosis https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis https://www.malacards.org/card/lathosterolosis lathosterolosis icd11.foundation:1816858203 sterol C5-desaturase deficiency Sc5D deficiency SCTID:719257008 GARD:0009711 UMLS:C1846421 MESH:C537880 Orphanet:46059 MONDO:0011816 MEDGEN:375885 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. OMIM:607330 cholesterol biosynthetic process disease