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(Q27677764)
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English
retinitis pigmentosa 38
retinitis pigmentosa that has material basis in mutation in the MERTK gene on chromosome 2q13
RP38
retinitis pigmentosa type 38
Rod-Cone Dystrophy, Childhood-Onset
RETINITIS PIGMENTOSA 38; RP38
RETINITIS PIGMENTOSA 38
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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:0110367
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110367
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110367
genetic association
MERTK
2 references
stated in
UniProt
UniProt protein ID
Q12866
retrieved
13 August 2019
stated in
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110367
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110367
http://identifiers.org/doid/DOID:0110367
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110367
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110367
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110367
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013469
Mondo ID
MONDO_0013469
0 references
OMIM ID
613862
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110367
UMLS CUI
C3151228
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013469
UniProt disease ID
DI-03030
0 references
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