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(Q27674894)
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English
cataract 25
cataract that has material basis in variation in the region 15q21-q22
CCSSO
CTRCT25
central pouch-like cataract with sutural opacities
central saccular cataract with sutural opacities
early-onset cataract with Y-shaped suture opacities
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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_0020372
class of disease
0 references
subclass of
cataract
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110254
health specialty
medical genetics
0 references
genetic association
CRYBA1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000108255/Orphanet_98985
based on heuristic
inferred from an Open Targets association score over 0.7
MIP
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000135517/Orphanet_98985
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_0110254
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110254
http://identifiers.org/doid/DOID:0110254
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110254
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110254
ICD-10-CM
Q12.0
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110254
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0020372
Mondo ID
MONDO_0020372
0 references
OMIM ID
605728
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110254
Orphanet ID
98985
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110254
UMLS CUI
C1854021
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0020372
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