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(Q27674949)
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English
retinitis pigmentosa 75
retinitis pigmentosa that has material basis in mutation in the AGBL5 gene on chromosome 2p23
RP75
retinitis pigmentosa type 75
Retinitis Pigmentosa 75
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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
27 November 2020
Disease Ontology ID
DOID:0110361
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110361
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0110361
genetic association
AGBL5
2 references
stated in
UniProt
UniProt protein ID
Q8NDL9
retrieved
13 August 2019
stated in
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110361
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0110361
http://identifiers.org/doid/DOID:0110361
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110361
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0110361
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110361
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014871
Mondo ID
MONDO_0014871
0 references
OMIM ID
617023
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110361
UMLS CUI
C4310759
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014871
UniProt disease ID
DI-04756
0 references
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Wikiversity
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