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(Q32145912)
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English
Joubert syndrome 8
A Joubert syndrome that has material basis in mutation in the ARL13B gene on chromosome 3q11.1-q11.2
JBTS8
JOUBERT SYNDROME 8
Joubert Syndrome type 8
JOUBERT SYNDROME 8; JBTS8
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Statements
instance of
class of disease
0 references
subclass of
Joubert syndrome
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012855
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111003
genetic association
ARL13B
1 reference
stated in
UniProt
UniProt protein ID
Q3SXY8
retrieved
13 August 2019
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0111003
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111003
http://identifiers.org/doid/DOID:0111003
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_475
0 references
Identifiers
MeSH descriptor ID
C567358
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012855
C567358
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111003
Disease Ontology ID
DOID:0111003
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111003
Mondo ID
MONDO_0012855
0 references
OMIM ID
612291
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111003
UMLS CUI
C2676771
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012855
UniProt disease ID
DI-00611
0 references
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Wikiversity
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