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(Q27674867)
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English
cataract 8 multiple types
A cataract that has material basis in variation in the region 1pter-p36.13.
CCV
CTRCT8
cataract, congenital, Volkmann type
CATARACT 8, MULTIPLE TYPES
CATARACT 8, MULTIPLE TYPES; CTRCT8
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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_0007280
class of disease
0 references
subclass of
cataract
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110228
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110228
health specialty
medical genetics
0 references
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110228
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110228
http://identifiers.org/doid/DOID:0110228
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C538285
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0007280
Disease Ontology ID
DOID:0110228
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110228
GARD rare disease ID
1146
0 references
ICD-10-CM
Q12.0
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110228
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0007280
ICD-11 (foundation)
1665900452
0 references
Mondo ID
MONDO_0007280
0 references
OMIM ID
115665
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110228
Orphanet ID
98983
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0007280
UMLS CUI
C1861833
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0007280
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