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English
retinitis pigmentosa 40
retinitis pigmentosa that has material basis in mutation in the PDE6B gene on chromosome 4p16
RP40
retinitis pigmentosa type 40
RETINITIS PIGMENTOSA 40
RETINITIS PIGMENTOSA 40; RP40
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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:0110375
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110375
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110375
genetic association
PDE6B
2 references
stated in
UniProt
UniProt protein ID
P35913
retrieved
13 August 2019
stated in
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110375
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110375
http://identifiers.org/doid/DOID:0110375
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110375
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110375
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110375
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013429
Mondo ID
MONDO_0013429
0 references
OMIM ID
613801
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110375
UMLS CUI
C3151107
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013429
UniProt disease ID
DI-03031
0 references
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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