About: severe congenital neutropenia

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neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections (en)
exact match	wds:Q18553325-1F6DB133-F212-4AA7-BED7-B1FBAD0F7AF2 wds:Q18553325-7A622169-28D4-419C-B499-5092C3596F99 wds:Q18553325-BA7DD69A-4B91-46C9-A039-7D5FC572F69E wds:Q18553325-E5AA5DDC-03F0-46CB-9F41-6281E69B48DD
exact match	http://www.orpha.net/ORDO/Orphanet_486 http://purl.obolibrary.org/obo/DOID_0050590 http://identifiers.org/doid/DOID:0050590 http://www.orpha.net/ORDO/Orphanet_86788
Mondo ID	wds:Q18553325-F971E49B-E45B-4638-9885-CD0674654912
Disease Ontology ID	wds:Q18553325-30E00AE8-060D-4C3B-B2BA-97A2DF05351B
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010294
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050590
Mondo ID	MONDO_0010294
Disease Ontology ID	DOID:0050590
rdfs:label	neutropénie congénitale sévère (fr) severe congenital neutropenia (en) 重度の先天性好中球減少症 (ja) 重症先天性粒细胞缺乏症 (zh)
skos:prefLabel	neutropénie congénitale sévère (fr) severe congenital neutropenia (en) 重度の先天性好中球減少症 (ja) 重症先天性粒细胞缺乏症 (zh)
name	neutropénie congénitale sévère (fr) severe congenital neutropenia (en) 重度の先天性好中球減少症 (ja) 重症先天性粒细胞缺乏症 (zh)
instance of	wds:Q18553325-34C4FBFB-2B82-4F4B-8262-9C754BCB1208 wds:Q18553325-799AE09D-D819-41DE-B7D8-96A1F5F1E9E6
instance of	class of disease rare disease
subclass of	wds:Q18553325-07b0612c-459c-6ec8-c855-4b568d6f1240 wds:Q18553325-DF75040F-668E-446E-ABD3-3105F9728457 wds:Q18553325-b34a96a2-4b27-5eff-7b09-d4853b8f61ad
subclass of	neutropenia ELANE-related neutropenia constitutional neutropenia
UniProt disease ID	wds:Q18553325-6186ee15-497f-d101-7481-a080fe99d749
Orphanet ID	wds:Q18553325-887AE325-25D1-41EC-AD3D-7B5BF04971AD wds:Q18553325-8965347B-E146-4D1C-9863-F8098DA41A60
genetic association	wds:Q18553325-4296442E-9AE4-42A0-B58F-1E4F53E3AB58 wds:Q18553325-69395C93-EA02-40C5-BF4A-13B9BE46D534
ICD-10-CM	wds:Q18553325-907D0CCD-2855-480E-9506-480EFAEC6759
GARD rare disease ID	wds:Q18553325-8BD1B169-F8F9-4935-AE45-5093CE56EEA4 wds:Q18553325-C3EA5529-4CFA-4B18-A4FC-B48DDF6537F9
OMIM ID	wds:Q18553325-c1ab8d70-4aa4-0ff9-8839-281ef27f1ecf
Genetics Home Reference Conditions ID	wds:Q18553325-129AFAC5-4B81-4F38-8C94-16B04964CFE4
UniProt disease ID	DI-02457
Orphanet ID	42738 86788
genetic association	wd:Q14905648 WAS
ICD-10-CM	D70
GARD rare disease ID	3981 13592
OMIM ID	300299
Genetics Home Reference Conditions ID	severe-congenital-neutropenia
skos:altLabel	SCNX (en) NEUTROPENIA, SEVERE CONGENITAL, X-LINKED (en) NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX (en) Severe congenital neutropenia X-linked (en) Xln (en) severe congenital neutropenia, X-linked (en)
UMLS CUI	wds:Q18553325-3F21AE75-D797-41FC-8887-8B1AB1CDC4E0
MeSH descriptor ID	wds:Q18553325-1F1E6433-E7E9-4E48-821E-2AD8299ABCE8
on focus list of Wikimedia project	wds:Q18553325-EF601FE8-FEAD-4364-B8F7-8013A7BEB893
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C564539
UMLS CUI	C1845987
MeSH descriptor ID	C564539
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553325
is subclass of of	Kostmann syndrome X-linked severe congenital neutropenia severe congenital neutropenia 7 Dursun syndrome autosomal recessive severe congenital neutropenia due to CXCR2 deficiency severe congenital neutropenia 3 autosomal dominant severe congenital neutropenia severe congenital neutropenia 6 severe congenital neutropenia 5 severe congenital neutropenia 4 autosomal recessive severe congenital neutropenia due to CSF3R deficiency severe congenital neutropenia 1
is subclass of of	wds:Q102293954-178EBD06-8FAC-461E-A4AD-F041ECD6663B wds:Q55788117-cb4a7b30-4bb4-8f2c-1146-aa6ab802ad9f wds:Q102293991-D3F46156-77FF-408F-9DAC-BBE178C4BC5B wds:Q102293418-11739BF4-AB1F-4EA0-AFBF-F72E9E7C3388 wds:Q102294022-A40E79DC-37A9-4D59-A2A7-21928149B962 wds:Q69638170-cdad1929-41e4-7234-39ff-2bf56fc38d06 wds:Q102293958-283995E1-E1A6-4807-871E-CFA087A55EF3 wds:Q102295888-3390FCBC-1539-4D8B-AB53-F3F7BC669D36 wds:Q1337441-7b557a24-4f68-8361-030c-3c97c22599de wds:Q102293346-47F8A78D-53D2-4458-A4CA-7BC087C86E34 wds:Q102293466-55F06ECD-FC00-4FE8-AD76-1065F3A00651 wds:Q55785069-714e3a44-41e1-112c-05c4-8e79360fcf3a
is main subject of	Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia

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