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(Q18553385)
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English
bestrophinopathy
Human disease
autosomal recessive bestrophinopathy
Retinopathy, Burgess-Black type
ARB
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
In more languages
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
macular degeneration
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050662
fundus dystrophy
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012733
genetic association
BEST1
3 references
stated in
UniProt
UniProt protein ID
O76090
retrieved
13 August 2019
stated in
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000167995/MONDO_0012733
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050662
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050662
http://identifiers.org/doid/DOID:0050662
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_139455
0 references
Identifiers
MeSH descriptor ID
C567518
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012733
C567518
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050662
Disease Ontology ID
DOID:0050662
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050662
ICD-10-CM
H35.5
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012733
ICD-11 (foundation)
760377585
0 references
Mondo ID
MONDO_0012733
0 references
OMIM ID
611809
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050662
Orphanet ID
139455
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012733
UMLS CUI
C3888198
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012733
C2678493
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012733
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