Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619155 http://purl.bioontology.org/ontology/OMIM/619155
Preferred Name	NEPHROTIC SYNDROME, TYPE 22
Synonyms	NPHS22
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NPHS22
prefLabel	NEPHROTIC SYNDROME, TYPE 22
Gene Symbol	CAPON NPHS22 NOS1AP KIAA0464
Scope Statement	Two unrelated patients have been reported (last curated January 2021) [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the nitric oxide synthase 1 (neuronal) adaptor protein gene (NOS1AP, 605551.0001) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU072329 http://purl.bioontology.org/ontology/OMIM/MTHU036803 http://purl.bioontology.org/ontology/OMIM/MTHU001376 http://purl.bioontology.org/ontology/OMIM/MTHU072330 http://purl.bioontology.org/ontology/OMIM/MTHU072328 http://purl.bioontology.org/ontology/OMIM/MTHU040823 http://purl.bioontology.org/ontology/OMIM/MTHU036764 http://purl.bioontology.org/ontology/OMIM/MTHU072327 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU036802 http://purl.bioontology.org/ontology/OMIM/MTHU000002 See more See less
tui	T047
Gene Locus	1q23.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619155
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436909
OMIM Entry Type	3
OMIM MimType Value	pound

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