(Q26492775)

English

poikiloderma with neutropenia

Human disease

PN
Poikiloderma with neutropenia, Clericuzio type
POIKILODERMA WITH NEUTROPENIA
POIKILODERMA WITH NEUTROPENIA; PN
Poikiloderma With Neutropenia, Clericuzio-Type

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Statements

0 references

0 references

1 reference

30 November 2020

0 references

constitutional neutropenia with extra-hematopoietic manifestations

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011405

hereditary poikiloderma

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

15 May 2019

autosomal recessive disease

1 reference

30 November 2020

0 references

3 references

13 August 2019

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000103005/MONDO_0011405

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

C177535

mapping relation type

exact match

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060551

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060551

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_221046

0 references

Identifiers

1 reference

28 August 2019

0 references

1 reference

30 November 2020

1 reference

28 August 2019

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q26492775)

poikiloderma with neutropenia

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