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(Q27674958)
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English
retinitis pigmentosa 72
retinitis pigmentosa that has material basis in mutation in the ZNF408 gene on chromosome 11p11
RP72
Retinitis Pigmentosa type 72
RETINITIS PIGMENTOSA 72
RETINITIS PIGMENTOSA 72; RP72
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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:0110395
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110395
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110395
genetic association
ZNF408
2 references
stated in
UniProt
UniProt protein ID
Q9H9D4
retrieved
13 August 2019
stated in
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110395
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110395
http://identifiers.org/doid/DOID:0110395
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110395
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110395
ICD-10-CM
H35.5
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110395
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014653
Mondo ID
MONDO_0014653
0 references
OMIM ID
616469
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110395
UMLS CUI
C4225315
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014653
UniProt disease ID
DI-04485
0 references
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Wikiversity
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Wiktionary
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Multilingual sites
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