(Q32147448)

English

nephronophthisis 9

nephronophthisis that has material basis in homozygous mutation in the NEK8 gene on chromosome 17q11

NPHP9
Nephronophthisis type 9
NEPHRONOPHTHISIS 9; NPHP9
NEPHRONOPHTHISIS 9

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Statements

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class of disease

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nephronophthisis

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0111120

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111120

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_655

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Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

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

UniProt disease ID

0 references

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