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Joubert syndrome 5
Joubert syndrome that has material basis in mutation in the CEP290 gene on chromosome 12q21
JBTS5
Joubert Syndrome type 5
JOUBERT SYNDROME 5; JBTS5
JOUBERT SYNDROME 5
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Statements
instance of
rare disease
0 references
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_0012432
stated in
Disease Ontology
retrieved
30 November 2021
Disease Ontology ID
DOID:0111000
Joubert syndrome with oculorenal defect
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012432
genetic association
CEP290
2 references
stated in
UniProt
UniProt protein ID
O15078
retrieved
13 August 2019
stated in
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0111000
1 reference
stated in
Disease Ontology
retrieved
30 November 2021
Disease Ontology ID
DOID:0111000
http://identifiers.org/doid/DOID:0111000
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_2318
0 references
Identifiers
MeSH descriptor ID
C537688
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012432
C537688
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111000
Disease Ontology ID
DOID:0111000
1 reference
stated in
Disease Ontology
retrieved
30 November 2021
Disease Ontology ID
DOID:0111000
Mondo ID
MONDO_0012432
0 references
OMIM ID
610188
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111000
UMLS CUI
C1857780
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012432
UniProt disease ID
DI-00608
0 references
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