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English
retinitis pigmentosa 44
retinitis pigmentosa that has material basis in mutation in the RGR gene on chromosome 10q23
RP44
RETINITIS PIGMENTOSA 44; RP44
RETINITIS PIGMENTOSA 44
Retinitis Pigmentosa type 44
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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 2021
Disease Ontology ID
DOID:0110394
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110394
genetic association
RGR
2 references
stated in
UniProt
UniProt protein ID
P47804
retrieved
13 August 2019
stated in
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110394
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110394
http://identifiers.org/doid/DOID:0110394
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110394
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110394
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110394
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013414
Mondo ID
MONDO_0013414
0 references
OMIM ID
613769
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110394
UMLS CUI
C3151068
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013414
UniProt disease ID
DI-03033
0 references
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Wikiversity
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Multilingual sites
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