Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q32146098)
Watch
English
cone-rod dystrophy 13
A cone-rod dystrophy that has material basis in mutation in the RPGRIP1 gene on chromosome 14q11.2.
CORD13
CONE-ROD DYSTROPHY 13
CONE-ROD DYSTROPHY 13; CORD13
Cone-Rod Dystrophy type 13
In more languages
edit
Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
cone-rod dystrophy
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0111016
genetic association
RPGRIP1
2 references
stated in
UniProt
UniProt protein ID
Q96KN7
retrieved
13 August 2019
stated in
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0111016
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0111016
http://identifiers.org/doid/DOID:0111016
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C567698
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011987
Disease Ontology ID
DOID:0111016
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0111016
Mondo ID
MONDO_0011987
0 references
OMIM ID
608194
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111016
UMLS CUI
C2750720
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011987
UniProt disease ID
DI-00323
0 references
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
