Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q32147374)
Watch
English
nephronophthisis 4
A nephronophthisis that has material basis in mutation in the NPHP4 gene on chromosome 1p36.31.
NPHP4
juvenile nephronophthisis 4
Nephronophthisis 4, Juvenile
nephronophthisis type 4
NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4; NPHP4
In more languages
edit
Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
nephronophthisis
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111115
genetic association
NPHP4
3 references
stated in
UniProt
UniProt protein ID
O75161
retrieved
13 August 2019
stated in
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
stated in
ClinGen
retrieved
28 February 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cafd0d51-dd5d-4691-8725-86518345b097-2021-02-10T170000.000Z
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0111115
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111115
http://identifiers.org/doid/DOID:0111115
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_655
0 references
Identifiers
MeSH descriptor ID
C564640
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0011752
Disease Ontology ID
DOID:0111115
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111115
Mondo ID
MONDO_0011752
0 references
OMIM ID
606966
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111115
606966
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0011752
UMLS CUI
C1847013
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0011752
UniProt disease ID
DI-00806
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