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English
cataract 44
cataract that has material basis in homozygous mutation in the LSS gene on chromosome 21q22
CTRCT44
total early-onset cataract
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
cataract
1 reference
stated in
Disease Ontology
retrieved
30 November 2021
Disease Ontology ID
DOID:0110267
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2021
Disease Ontology ID
DOID:0110267
health specialty
medical genetics
0 references
genetic association
LSS
1 reference
stated in
Lanosterol reverses protein aggregation in cataracts
MIP
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000135517/Orphanet_98994
based on heuristic
inferred from an Open Targets association score over 0.7
EPHA2
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000142627/Orphanet_98994
based on heuristic
inferred from an Open Targets association score over 0.7
CRYGS
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000213139/Orphanet_98994
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_0110267
1 reference
stated in
Disease Ontology
retrieved
30 November 2021
Disease Ontology ID
DOID:0110267
http://identifiers.org/doid/DOID:0110267
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110267
1 reference
stated in
Disease Ontology
retrieved
30 November 2021
Disease Ontology ID
DOID:0110267
ICD-10-CM
Q12.0
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110267
Mondo ID
MONDO_0014673
0 references
OMIM ID
616509
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110267
Orphanet ID
98994
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110267
UniProt disease ID
DI-04502
0 references
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Wikiversity
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