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(Q27674837)
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English
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome that has material basis in mutation in the TRIM32 gene on chromosome 9q33
BBS11
Bardet-Biedl syndrome type 11
BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11; BBS11
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014439
rare disease
0 references
class of disease
0 references
subclass of
Bardet-Biedl syndrome
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110133
health specialty
medical genetics
0 references
genetic association
TRIM32
2 references
stated in
UniProt
UniProt protein ID
Q13049
retrieved
13 August 2019
stated in
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110133
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110133
http://identifiers.org/doid/DOID:0110133
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233
Identifiers
MeSH descriptor ID
C565920
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014439
Disease Ontology ID
DOID:0110133
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110133
GARD rare disease ID
10210
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110133
ICD-10-CM
Q87.89
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110133
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014439
Mondo ID
MONDO_0014439
0 references
OMIM ID
615988
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110133
UMLS CUI
C1859569
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014439
UniProt disease ID
DI-00169
0 references
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Wiktionary
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Multilingual sites
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