Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q27674955)
Watch
English
retinitis pigmentosa 73
retinitis pigmentosa that has material basis in mutation in the HGSNAT gene on chromosome 8p11
RP73
RETINITIS PIGMENTOSA 73; RP73
RETINITIS PIGMENTOSA 73
retinitis pigmentosa type 73
In more languages
edit
Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
retinitis pigmentosa
1 reference
stated in
Disease Ontology
retrieved
25 November 2020
Disease Ontology ID
DOID:0110389
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110389
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
25 November 2020
Disease Ontology ID
DOID:0110389
genetic association
HGSNAT
2 references
stated in
UniProt
UniProt protein ID
Q68CP4
retrieved
13 August 2019
stated in
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110389
1 reference
stated in
Disease Ontology
retrieved
25 November 2020
Disease Ontology ID
DOID:0110389
http://identifiers.org/doid/DOID:0110389
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110389
1 reference
stated in
Disease Ontology
retrieved
25 November 2020
Disease Ontology ID
DOID:0110389
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110389
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014687
Mondo ID
MONDO_0014687
0 references
OMIM ID
616544
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110389
UMLS CUI
C4225287
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014687
UniProt disease ID
DI-04519
0 references
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit