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English
retinitis pigmentosa 54
retinitis pigmentosa that has material basis in mutation in the C2ORF71 gene on chromosome 2p23
RP54
Retinitis Pigmentosa type 54
RETINITIS PIGMENTOSA 54; RP54
RETINITIS PIGMENTOSA 54
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
retinitis pigmentosa
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110364
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110364
genetic association
PCARE
2 references
stated in
UniProt
UniProt protein ID
A6NGG8
retrieved
13 August 2019
stated in
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110364
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110364
http://identifiers.org/doid/DOID:0110364
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110364
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110364
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110364
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013263
Mondo ID
MONDO_0013263
0 references
OMIM ID
613428
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110364
UMLS CUI
C3150691
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013263
UniProt disease ID
DI-02708
0 references
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Wikiversity
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Wiktionary
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Multilingual sites
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