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(Q27674950)
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English
retinitis pigmentosa 71
retinitis pigmentosa that has material basis in mutation in the IFT172 gene on chromosome 2p23
RP71
Retinitis Pigmentosa type 71
RETINITIS PIGMENTOSA 71; RP71
RETINITIS PIGMENTOSA 71
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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
18 January 2022
Disease Ontology ID
DOID:0110363
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110363
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0110363
genetic association
IFT172
2 references
stated in
UniProt
UniProt protein ID
Q9UG01
retrieved
13 August 2019
stated in
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110363
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0110363
http://identifiers.org/doid/DOID:0110363
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110363
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0110363
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110363
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014618
Mondo ID
MONDO_0014618
0 references
OMIM ID
616394
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110363
UMLS CUI
C4225342
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014618
UniProt disease ID
DI-04435
0 references
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Wikiversity
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Multilingual sites
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