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(Q55786200)
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English
sterol metabolism disorder with epilepsy
human disease
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No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
rare genetic epilepsy
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016405
metabolic disease with epilepsy
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016405
rare dyslipidemia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016405
sterol metabolism disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016405
exact match
http://www.orpha.net/ORDO/Orphanet_225710
0 references
Identifiers
Mondo ID
MONDO_0016405
0 references
Orphanet ID
225710
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016405
UMLS CUI
C5680902
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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