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(Q27677752)
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English
retinitis pigmentosa 59
A retinitis pigmentosa that has material basis in mutation in the DHDDS gene on chromosome 1p36.11.
RP59
RETINITIS PIGMENTOSA 59
RETINITIS PIGMENTOSA 59; RP59
retinitis pigmentosa type 59
Congenital disorder of glycosylation type Ibb
CDG1BB
DHDDS-CDG
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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:0110352
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110352
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110352
genetic association
DHDDS
2 references
stated in
UniProt
UniProt protein ID
Q86SQ9
retrieved
13 August 2019
stated in
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110352
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110352
http://identifiers.org/doid/DOID:0110352
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110352
0 references
GARD rare disease ID
12415
0 references
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110352
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013468
Mondo ID
MONDO_0013468
0 references
OMIM ID
613861
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110352
UMLS CUI
C3151227
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013468
CL924888
0 references
UniProt disease ID
DI-03036
0 references
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