Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	nephrocystin 1
Synonyms	SLSN1
ID	http://www.orpha.net/ORDO/Orphanet_123874
alternative_term	SLSN1 JBTS4
hasDbXref	Ensembl:ENSG00000144061 OMIM:607100 Genatlas:NPHP1 Reactome:O15259 SwissProt:O15259 HGNC:7905
label	nephrocystin 1
prefixIRI	ORDO:Orphanet_123874
prefLabel	nephrocystin 1
symbol	NPHP1
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_000011362	PR	LOOM
http://purl.obolibrary.org/obo/PR_000011362	NIFSTD	LOOM
http://purl.bioontology.org/ontology/OMIM/607100	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C75863	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75863	NCIT	LOOM