Online Mendelian Inheritance in Man - NEPHRONOPHTHISIS 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/602088 http://purl.bioontology.org/ontology/OMIM/602088
Preferred Name	NEPHRONOPHTHISIS 2
Synonyms	NPHP2 NPH2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NPHP2 NPH2
prefLabel	NEPHRONOPHTHISIS 2
Gene Symbol	NPH2 NPHP2 INVS INV
notation	602088
Scope Statement	Caused by mutation in the inversin gene (INVS, 243305.0001) [MOLECULAR BASIS] Neonatal death secondary to pulmonary insufficiency [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/MTHU005557 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU001474 http://purl.bioontology.org/ontology/OMIM/MTHU005558 http://purl.bioontology.org/ontology/OMIM/MTHU005564 http://purl.bioontology.org/ontology/OMIM/MTHU005561 http://purl.bioontology.org/ontology/OMIM/MTHU005559 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU005560 http://purl.bioontology.org/ontology/OMIM/MTHU036844 http://purl.bioontology.org/ontology/OMIM/MTHU005562 http://purl.bioontology.org/ontology/OMIM/MTHU005556 http://purl.bioontology.org/ontology/OMIM/MTHU036334 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	9q31
tui	T047
cui	C1865872

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