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Joubert syndrome 31
human disease
JBTS31
JOUBERT SYNDROME 31; JBTS31
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No label defined
No description defined
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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_0033310
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080277
genetic association
CEP120
1 reference
stated in
UniProt
UniProt protein ID
Q8N960
retrieved
13 August 2019
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080277
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080277
http://www.orpha.net/ORDO/Orphanet_475
0 references
http://identifiers.org/doid/DOID:0080277
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0080277
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080277
Mondo ID
MONDO_0033310
0 references
OMIM ID
617761
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080277
Orphanet ID
475
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0033310
UMLS CUI
C4540355
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0033310
UniProt disease ID
DI-05136
0 references
Sitelinks
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Wikiversity
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Wikivoyage
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Wiktionary
(0 entries)
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Multilingual sites
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