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(Q27674886)
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English
cataract 38
cataract that has material basis in homozygous mutation in the AGK gene on chromosome 7q34
CATC5
CTRCT38
autosomal recessive congenital cataract 5
CATARACT 38; CTRCT38
Cataract type 38
CATARACT 38
Cataract, Autosomal Recessive Congenital 5
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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 2020
Disease Ontology ID
DOID:0110245
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110245
health specialty
medical genetics
0 references
genetic association
AGK
2 references
stated in
UniProt
UniProt protein ID
Q53H12
retrieved
13 August 2019
stated in
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110245
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110245
http://identifiers.org/doid/DOID:0110245
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110245
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110245
ICD-10-CM
Q12.0
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110245
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013859
Mondo ID
MONDO_0013859
0 references
OMIM ID
614691
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110245
614691
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013859
UMLS CUI
C3553494
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013859
UniProt disease ID
DI-03473
0 references
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Wikiversity
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Wikivoyage
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