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(Q27674875)
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English
cataract 2 multiple types
cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33
CTRCT2
cataract 2 multiple types with or without microcornea
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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 2020
Disease Ontology ID
DOID:0110235
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110235
health specialty
medical genetics
0 references
genetic association
CRYGC
1 reference
stated in
The gamma-crystallins and human cataracts: a puzzle made clearer
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110235
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110235
http://identifiers.org/doid/DOID:0110235
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110235
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110235
ICD-10-CM
Q12.0
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110235
Mondo ID
MONDO_0100436
0 references
OMIM ID
604307
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110235
UniProt disease ID
DI-01425
0 references
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