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Disease association ontology term - MONDO:0011816 - lathosterolosis

Term summary

ID
MONDO:0011816
Name
lathosterolosis
Ontology or CV name
Disease association
Definition
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.

Parents

Annotation

Disease association

MONDO:0011816 - lathosterolosis

References:

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