Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	Juvenile nephronophthisis
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU012049
cui	C1855681
Manifestation of	http://purl.bioontology.org/ontology/OMIM/243910 http://purl.bioontology.org/ontology/OMIM/266900
notation	MTHU012049
prefLabel	Juvenile nephronophthisis
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000004

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C537699	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/444830001	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/204958008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/204958008	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/444830001	SNOMEDCT	CUI
http://www.orpha.net/ORDO/Orphanet_93592	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_93592	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/444830001	SNOMEDCT	LOOM