Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Cyclic neutropenia

Synonyms
Definitions

A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.

ID

http://www.orpha.net/ORDO/Orphanet_2686

definition

A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686

has_age_of_onset

All ages

has_inheritance

Autosomal dominant

hasDbXref

MeSH:C536227

MedDRA:10053176

UMLS:C0221023

OMIM:162800

ICD-11:4B00.00

ICD-10:D70

label

Cyclic neutropenia

notation

ORPHA:2686

part_of

http://www.orpha.net/ORDO/Orphanet_101987

prefixIRI

ORDO:Orphanet_2686

prefLabel

Cyclic neutropenia

present_in

Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_101987

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_2686 EFO SAME_URI
http://nanbyodata.jp/ontology/NANDO_2200746 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200354 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_2686 EFO LOOM
http://purl.bioontology.org/ontology/SNMI/DC-41290 SNMI LOOM
http://purl.bioontology.org/ontology/ICD9CM/288.02 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/288.02 NLMVS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3820 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10053176 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/C536227 MESH LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Cyclic_Neutropenia RPO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Cyclic_Neutropenia CSEO LOOM
http://purl.bioontology.org/ontology/ICD10CM/D70.4 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/D70.4 ICD10CM LOOM
http://purl.bioontology.org/ontology/OMIM/162800 OMIM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00008259 PMAPP-PMO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_5534 HRDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15508 DERMLEX LOOM
http://www.gamuts.net/entity#cyclic_neutropenia GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221023 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536227 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C3820 BERO LOOM
http://purl.obolibrary.org/obo/HP_0040289 HP LOOM
http://purl.obolibrary.org/obo/HP_0040289 UPHENO LOOM
http://purl.obolibrary.org/obo/DERMO_0000690 DERMO LOOM
http://www.gamuts.net/entity#cyclic_neutropenia GAMUTS REST