Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	nibrin
Synonyms	AT-V1 AT-V2 ATV
ID	http://www.orpha.net/ORDO/Orphanet_123688
alternative_term	AT-V1 AT-V2 ATV
hasDbXref	Ensembl:ENSG00000104320 OMIM:602667 Reactome:O60934 SwissProt:O60934 Genatlas:NBN ClinVar:NBN HGNC:7652
label	nibrin
prefixIRI	ORDO:Orphanet_123688
prefLabel	nibrin
symbol	NBN
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.limics.org/hrdo/rdfns#gen_id_16518	HRDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21171	NCIT	LOOM
http://purl.obolibrary.org/obo/PR_000011014	PR	LOOM
http://purl.obolibrary.org/obo/PR_000011014	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000011014	NIFSTD	LOOM
http://purl.obolibrary.org/obo/PR_000011014	OBA	LOOM
http://purl.bioontology.org/ontology/OMIM/602667	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C21171	BERO	LOOM