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(Q7003142)
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English
neutrophil immunodeficiency syndrome
medical condition
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
IMD73A
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
primary immunodeficiency disease
0 references
functional neutrophil defect
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011988
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0112064
combined immunodeficiency
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0112064
genetic association
RAC2
2 references
stated in
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000128340/MONDO_0011988
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_183707
0 references
http://purl.obolibrary.org/obo/DOID_0112064
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0112064
http://identifiers.org/doid/DOID:0112064
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C564275
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011988
BabelNet ID
02125748n
1 reference
stated in
BabelNet
Disease Ontology ID
DOID:0112064
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0112064
ICD-10-CM
D71
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011988
ICD-11 (foundation)
1459690929
0 references
ICD-11 ID (MMS)
4A00.00
subject named as
Neutrophil immunodeficiency syndrome
0 references
Microsoft Academic ID
2780304982
0 references
Mondo ID
MONDO_0011988
0 references
OMIM ID
608203
mapping relation type
exact match
2 references
imported from Wikimedia project
English Wikipedia
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011988
Orphanet ID
183707
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011988
SNOMED CT ID
723443003
1 reference
imported from Wikimedia project
English Wikipedia
Wikimedia import URL
https://en.wikipedia.org/w/index.php?title=Neutrophil_immunodeficiency_syndrome&oldid=948389452
UMLS CUI
C1842398
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011988
UniProt disease ID
DI-02051
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
Neutrophil immunodeficiency syndrome
Wikibooks
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
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Wikiversity
(0 entries)
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Wikivoyage
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Wiktionary
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Multilingual sites
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