Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	Juvenile nephronophthisis
Synonyms
ID	http://www.orpha.net/ORDO/Orphanet_93592
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93592
hasDbXref	OMIM:615382 ICD-11:GB83 UMLS:C1855681 ICD-10:Q61.5 OMIM:256100 MeSH:C537699
label	Juvenile nephronophthisis
notation	ORPHA:93592 Clinical subtype
part_of	http://www.orpha.net/ORDO/Orphanet_655
prefixIRI	ORDO:Orphanet_93592
prefLabel	Juvenile nephronophthisis
treeView	http://www.orpha.net/ORDO/Orphanet_655
subClassOf	http://www.orpha.net/ORDO/Orphanet_557494

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_93592	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_93592	EFO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_93592	EFO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_93592	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_93592	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_93592	EFO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU012049	OMIM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/444830001	SNOMEDCT	LOOM