Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/256100 http://purl.bioontology.org/ontology/OMIM/256100
Preferred Name	NEPHRONOPHTHISIS 1
Synonyms	NPH1 NEPHRONOPHTHISIS, FAMILIAL JUVENILE NPHP1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NPH1 NEPHRONOPHTHISIS, FAMILIAL JUVENILE NPHP1
prefLabel	NEPHRONOPHTHISIS 1
Gene Symbol	SLSN1 JBTS4 NPH1 NPHP1
notation	256100
Scope Statement	Caused by mutation in the nephrocystin 1 gene (NPHP1, 607100.0001) [MOLECULAR BASIS] Medial onset of end stage renal disease 13 years [MISCELLANEOUS] Allelic to Senior-Loken syndrome 1 (266900) and Joubert syndrome 4 (609583) [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003378 http://purl.bioontology.org/ontology/OMIM/MTHU020619 http://purl.bioontology.org/ontology/OMIM/MTHU000621 http://purl.bioontology.org/ontology/OMIM/MTHU004731 http://purl.bioontology.org/ontology/OMIM/MTHU004727 http://purl.bioontology.org/ontology/OMIM/MTHU037363 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU020623 http://purl.bioontology.org/ontology/OMIM/MTHU020618 http://purl.bioontology.org/ontology/OMIM/MTHU020617 http://purl.bioontology.org/ontology/OMIM/MTHU002640 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	2q13
tui	T047
cui	C1855681

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