(Q975182)

English

Pelger-Huet anomaly

Human disease

PELGER-HUET ANOMALY; PHA
PHA
PELGER-HUET ANOMALY

In more languages

default for all languages

No label defined

No description defined

Statements

0 references

class of disease

0 references

leukocyte disease

0 references

autosomal dominant disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

hematopoietic system disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000143815/EFO_1001093

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

C85002

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_9631

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:9631

1 reference

Identifiers.org

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

http://purl.obolibrary.org/obo/HP_0011447

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

C15.378.553.696

0 references

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

Experimental Factor Ontology ID

1 reference

based on heuristic

inferred by common MONDO mappings on source and on Wikidata

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

2 references

Disease Ontology

15 May 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

UniProt disease ID

0 references

WikiProjectMed ID

Pelger–Huët anomaly

0 references

Sitelinks

Wikipedia(8 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)

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