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(Q55788560)
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English
sterol biosynthesis disorder
acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process
rare inborn error of sterol biosynthetic process
inborn error of sterol biosynthetic process
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019240
class of disease
0 references
subclass of
developmental anomaly of metabolic origin
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019240
sterol metabolism disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019240
exact match
http://www.orpha.net/ORDO/Orphanet_79195
0 references
Identifiers
Mondo ID
MONDO_0019240
0 references
Orphanet ID
79195
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019240
UMLS CUI
C5681287
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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