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(Q55787312)
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sialidosis
No description defined
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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_0017734
class of disease
0 references
subclass of
oligosaccharidosis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017734
genetic association
NEU1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000204386/MONDO_0017734
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_309294
0 references
Identifiers
KEGG ID
H00142
0 references
Genetics Home Reference Conditions ID
sialidosis
0 references
ICD-10-CM
E77.1
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017734
ICD-11 (foundation)
1180347697
0 references
Mondo ID
MONDO_0017734
0 references
Orphanet ID
309294
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017734
UniProt disease ID
DI-02304
0 references
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