Medical Imaging and Diagnostic Ontology

Last uploaded: April 25, 2022
Preferred Name

severe congenital neutropenia

Synonyms
Definitions

A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050590

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:PS202700

ORDO:42738

ICD10CM:D70

GARD:13592

definition

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

Xref MGI. OMIM mapping confirmed by DO. [SN].

has_obo_namespace

disease_ontology

IAO_0000115

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

id

DOID:0050590

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

severe congenital neutropenia

notation

DOID:0050590

note

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

Xref MGI. OMIM mapping confirmed by DO. [SN].

prefLabel

severe congenital neutropenia

subClassOf

http://purl.obolibrary.org/obo/DOID_1227

http://purl.obolibrary.org/obo/DOID_0080015

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http://purl.obolibrary.org/obo/DOID_0050590 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050590 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050590 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050590 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050590 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050590 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_0050590 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200745 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200353 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018542 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0050590 DDSS LOOM
http://purl.obolibrary.org/obo/MONDO_0018542 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10576 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_42738 ORDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU008417 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0050590 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050590 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050590 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050590 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C166152 BERO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000285983 PDQ LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C166152 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/X20Df RCD LOOM
http://purl.jp/bio/4/id/201206028045425758 IOBC LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Severe_congenital_neutropenia RPO LOOM
http://www.orpha.net/ORDO/Orphanet_42738 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018542 DOVES LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15513 DERMLEX LOOM