Experimental Factor Ontology

Last uploaded: July 4, 2024

Preferred Name	severe congenital neutropenia
Synonyms	Severe Chronic Neutropenia neutropenia, severe congenital SCN
ID	http://purl.obolibrary.org/obo/MONDO_0018542
closeMatch	http://identifiers.org/meddra/10052210
database_cross_reference	Orphanet:42738 MedDRA:10052210 DOID:0050590 NANDO:2200745 OMIMPS:202700 NCIT:C166152 NANDO:1200353 SCTID:89655007 ICD9:288.01 GARD:13592 NORD:1705
exactMatch	http://purl.obolibrary.org/obo/DOID_0050590 https://omim.org/phenotypicSeries/PS202700 http://purl.obolibrary.org/obo/NCIT_C166152 http://identifiers.org/snomedct/89655007 http://purl.obolibrary.org/obo/Orphanet_42738
has_exact_synonym	Severe Chronic Neutropenia neutropenia, severe congenital SCN
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4069
id	MONDO:0018542
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label	severe congenital neutropenia
notation	MONDO:0018542
preferred label	severe congenital neutropenia
prefLabel	severe congenital neutropenia
subClassOf	http://www.ebi.ac.uk/efo/EFO_0000508 http://purl.obolibrary.org/obo/MONDO_0015134

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018542	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018542	MONDO	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/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	MIDO	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