Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	NEPHROCYSTIN 1
Synonyms	NPH1
ID	http://purl.bioontology.org/ontology/OMIM/607100
altLabel	NPH1 JOUBERT SYNDROME 4 SENIOR-LOKEN SYNDROME 1 NPHP1 NEPHRONOPHTHISIS 1
cui	C1846790 C4551559 C1855681 C1417782
Gene Locus	2q13
Gene Symbol	SLSN1 JBTS4 NPH1 NPHP1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/607100.0005 http://purl.bioontology.org/ontology/OMIM/607100.0002 http://purl.bioontology.org/ontology/OMIM/607100.0001 http://purl.bioontology.org/ontology/OMIM/607100.0003 http://purl.bioontology.org/ontology/OMIM/607100.0004
MIMTYPEMEANING	Gene with known sequence
notation	607100
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	NEPHROCYSTIN 1
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C536296	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C537580	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C537699	MESH	CUI
http://purl.bioontology.org/ontology/LNC/LP101429-1	LOINC	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://purl.obolibrary.org/obo/PR_000011362	PR	LOOM
http://purl.obolibrary.org/obo/PR_000011362	NIFSTD	LOOM
http://purl.obolibrary.org/obo/NCIT_C75863	BERO	LOOM
http://www.orpha.net/ORDO/Orphanet_123874	ORDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75863	NCIT	LOOM