Preferred Name

Cyclic Neutropenia

Synonyms
Definitions

A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.

ID

http://purl.obolibrary.org/obo/NCIT_C3820

ALT_DEFINITION

A chronic condition that affects neutrophils (a type of white blood cell). In cyclic neutropenia, the number of neutrophils in the blood goes in cycles from normal to low and back to normal again. Symptoms include fever, inflamed mucous membranes in the mouth, and infections.

A hematologic disorder caused by a mutation in the ELANE (ELA2) gene. Clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.

code

C3820

Contributing_Source

Cellosaurus

NICHD

definition

A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.

in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C118468

http://purl.obolibrary.org/obo/NCIT_C165258

label

Cyclic Neutropenia

Legacy Concept Name

Cyclic_Neutropenia

Preferred_Name

Cyclic Neutropenia

prefixIRI

NCIT:C3820

prefLabel

Cyclic Neutropenia

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0221023

subClassOf

http://purl.obolibrary.org/obo/NCIT_C26324

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Delete Mapping To Ontology Source
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://nanbyodata.jp/ontology/NANDO_2200746 NANDO 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://nanbyodata.jp/ontology/NANDO_1200354 NANDO 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://www.orpha.net/ORDO/Orphanet_2686 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_2686 EFO 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