Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	peripheral myelin protein 22
Synonyms	HNPP
ID	http://www.orpha.net/ORDO/Orphanet_117908
alternative_term	HNPP Sp110 HMSNIA GAS3
hasDbXref	Genatlas:PMP22 OMIM:601097 Ensembl:ENSG00000109099 SwissProt:Q01453 Reactome:Q01453 HGNC:9118
label	peripheral myelin protein 22
prefixIRI	ORDO:Orphanet_117908
prefLabel	peripheral myelin protein 22
symbol	PMP22
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000012910	PR	LOOM
http://purl.obolibrary.org/obo/PR_000012910	NIFSTD	LOOM
http://purl.obolibrary.org/obo/NCIT_C75902	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/601097	OMIM	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15114	HRDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75902	NCIT	LOOM