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English
retinitis pigmentosa 47
retinitis pigmentosa that has material basis in mutation in the SAG gene on chromosome 2q37
RP47
RETINITIS PIGMENTOSA 47
retinitis pigmentosa type 47
RETINITIS PIGMENTOSA 47; RP47
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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
30 November 2020
Disease Ontology ID
DOID:0110369
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110369
genetic association
SAG
2 references
stated in
UniProt
UniProt protein ID
P10523
retrieved
13 August 2019
stated in
Arrestin gene mutations in autosomal recessive retinitis pigmentosa
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110369
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110369
http://identifiers.org/doid/DOID:0110369
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110369
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110369
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110369
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013407
Mondo ID
MONDO_0013407
0 references
OMIM ID
613758
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110369
UMLS CUI
C3151061
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013407
UniProt disease ID
DI-03034
0 references
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Wikiversity
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