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English
retinitis pigmentosa 66
retinitis pigmentosa that has material basis in mutation in the RBP3 gene on chromosome 10q11
RP66
RETINITIS PIGMENTOSA 66
retinitis pigmentosa type 66
RETINITIS PIGMENTOSA 66; RP66
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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:0110393
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110393
genetic association
RBP3
2 references
stated in
UniProt
UniProt protein ID
P10745
retrieved
13 August 2019
stated in
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110393
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110393
http://identifiers.org/doid/DOID:0110393
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110393
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110393
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110393
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0014093
Mondo ID
MONDO_0014093
0 references
OMIM ID
615233
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110393
615233
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0014093
UMLS CUI
C3715216
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0014093
UniProt disease ID
DI-03727
0 references
Sitelinks
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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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