(Q32147478)

English

nephronophthisis 14

A nephronophthisis that has material basis in homozygous mutation in the ZNF423 gene on chromosome 16q12.1

NPHP14
Nephronophthisis type 14
NEPHRONOPHTHISIS 14; NPHP14
Joubert Syndrome 19
NEPHRONOPHTHISIS 14

In more languages

Statements

0 references

class of disease

0 references

nephronophthisis

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0111122

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://identifiers.org/doid/DOID:0111122

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

http://www.orpha.net/ORDO/Orphanet_2318

0 references

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q32147478&oldid=2087300062"