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cataract 45
cataract that has material basis in homozygous mutation in the SIPA1L3 gene on chromosome 19q13
CTRCT45
Cataract type 45
Cataract 45
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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_0014799
rare disease
0 references
class of disease
0 references
subclass of
cataract
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110262
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110262
health specialty
medical genetics
0 references
genetic association
SIPA1L3
2 references
stated in
UniProt
UniProt protein ID
O60292
retrieved
13 August 2019
stated in
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110262
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110262
http://identifiers.org/doid/DOID:0110262
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110262
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110262
ICD-10-CM
Q12.0
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110262
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014799
Mondo ID
MONDO_0014799
0 references
OMIM ID
616851
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110262
UMLS CUI
C4225182
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014799
UniProt disease ID
DI-04671
0 references
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