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(Q27677800)
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English
retinitis pigmentosa 45
retinitis pigmentosa that has material basis in mutation in the CNGB1 gene on chromosome 16q13
RP45
RETINITIS PIGMENTOSA 45
Retinitis Pigmentosa type 45
RETINITIS PIGMENTOSA 45; RP45
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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
15 May 2019
Disease Ontology ID
DOID:0110402
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110402
genetic association
CNGB1
2 references
stated in
UniProt
UniProt protein ID
Q14028
retrieved
13 August 2019
stated in
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110402
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110402
http://identifiers.org/doid/DOID:0110402
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233
Identifiers
Disease Ontology ID
DOID:0110402
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110402
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110402
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013413
Mondo ID
MONDO_0013413
0 references
OMIM ID
613767
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110402
UMLS CUI
C3151066
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013413
UniProt disease ID
DI-02264
0 references
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