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(Q56002527)
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English
tuberous sclerosis 2
Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).
TUBEROUS SCLEROSIS 2; TSC2
TSC2
Tsc2 Angiomyolipomas, Renal, Modifier of
TUBEROUS SCLEROSIS 2
Tuberous Sclerosis type 2
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Statements
instance of
disease
0 references
subclass of
tuberous sclerosis
0 references
genetic association
TSC2
1 reference
stated in
UniProt
UniProt protein ID
P49815
retrieved
13 August 2019
NCI Thesaurus ID
C75331
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013199
exact match
http://www.orpha.net/ORDO/Orphanet_805
0 references
Identifiers
GARD rare disease ID
5381
0 references
Mondo ID
MONDO_0013199
0 references
OMIM ID
613254
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013199
UMLS CUI
C1860707
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013199
C2750460
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013199
UniProt disease ID
DI-02846
0 references
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