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Joubert syndrome 22
Joubert syndrome that has material basis in homozygous mutation in the PDE6D gene on chromosome 2q37
JBTS22
Joubert syndrome type 22
JOUBERT SYNDROME 22; JBTS22
JOUBERT SYNDROME 22
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Statements
instance of
class of disease
0 references
subclass of
Joubert syndrome
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110991
Joubert syndrome with orofaciodigital defect
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014297
genetic association
PDE6D
1 reference
stated in
UniProt
UniProt protein ID
O43924
retrieved
13 August 2019
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110991
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110991
http://identifiers.org/doid/DOID:0110991
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_2754
0 references
Identifiers
Disease Ontology ID
DOID:0110991
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110991
Mondo ID
MONDO_0014297
0 references
OMIM ID
615665
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110991
UMLS CUI
C3810278
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014297
UniProt disease ID
DI-04020
0 references
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