Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	perforin 1
Synonyms	Perforin HPLH2 perforin 1 (preforming protein) P1 PFP
ID	http://www.orpha.net/ORDO/Orphanet_117995
alternative_term	Perforin HPLH2 perforin 1 (preforming protein) P1 PFP
hasDbXref	Genatlas:PRF1 SwissProt:P14222 ClinVar:PRF1 Ensembl:ENSG00000180644 IUPHAR:3100 OMIM:170280 HGNC:9360
label	perforin 1
prefixIRI	ORDO:Orphanet_117995
prefLabel	perforin 1
symbol	PRF1
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97741	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C97741	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/170280	OMIM	LOOM
http://purl.obolibrary.org/obo/PR_000003466	CL	LOOM
http://purl.obolibrary.org/obo/PR_000003466	CL	LOOM
http://purl.obolibrary.org/obo/PR_000003466	PR	LOOM
http://purl.obolibrary.org/obo/PR_000003466	HHEAR	LOOM
http://purl.obolibrary.org/obo/PR_000003466	NIFSTD	LOOM
http://purl.obolibrary.org/obo/PR_000003466	OBA	LOOM