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cataract 39 multiple types
cataract that has material basis in heterozygous mutation in the CRYGB gene on chromosome 2q34
CTRCT39
autosomal dominant cataract 39 multiple types
CATARACT 39, MULTIPLE TYPES
CATARACT 39, MULTIPLE TYPES; CTRCT39
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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
29 November 2021
Disease Ontology ID
DOID:0110236
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110236
health specialty
medical genetics
0 references
genetic association
CRYGB
2 references
stated in
UniProt
UniProt protein ID
P07316
retrieved
13 August 2019
stated in
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110236
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110236
http://identifiers.org/doid/DOID:0110236
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110236
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110236
ICD-10-CM
Q12.0
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110236
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0014075
Mondo ID
MONDO_0014075
0 references
OMIM ID
615188
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110236
615188
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0014075
UMLS CUI
C3808800
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0014075
UniProt disease ID
DI-03806
0 references
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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