(Q24975453)

English

Neutrophil-specific granule deficiency

human disease

Lactoferrin-Deficient Neutrophils
SPECIFIC GRANULE DEFICIENCY; SGD
SGD
Neutrophil Lactoferrin Deficiency
SPECIFIC GRANULE DEFICIENCY

In more languages

Statements

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class of disease

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primary immunodeficiency disease

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functional neutrophil defect

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon

http://www.orpha.net/ORDO/Orphanet_169142

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Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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GARD rare disease ID

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1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

WikiProjectMed ID

Neutrophil-specific granule deficiency

0 references

Sitelinks

Wikipedia(1 entry)

enwiki Neutrophil-specific granule deficiency

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Wikiquote(0 entries)

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Wikiversity(0 entries)

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Wiktionary(0 entries)

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