(Q26492799)

English

XFE progeroid syndrome

Human disease

XFEPS
XPF-ERCC1 progeroid syndrome
XFE PROGEROID SYNDROME; XFEPS
XFE PROGEROID SYNDROME

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Statements

0 references

0 references

4 references

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

stated in

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

stated in

Identification of microRNAs dysregulated in cellular senescence driven by endogenous genotoxic stress

30 November 2020

0 references

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

15 May 2019

autosomal recessive disease

1 reference

30 November 2020

3 references

13 August 2019

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000175595/MONDO_0012590

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C173111

mapping relation type

exact match

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060590

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060590

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C567043

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

30 November 2020

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

28 August 2019

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q26492799)

XFE progeroid syndrome

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