Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615573 http://purl.bioontology.org/ontology/OMIM/615573
Preferred Name	NEPHROTIC SYNDROME, TYPE 9
Synonyms	NPHS9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NPHS9
prefLabel	NEPHROTIC SYNDROME, TYPE 9
Gene Symbol	NPHS9 ADCK4 COQ8B
Scope Statement	One patient has had favorable response to high dose coenzyme Q10 supplementation in combination with other medications [MISCELLANEOUS] Onset in the first or second decades [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS] Caused by mutation in the AARF domain-containing kinase 4 gene (ADCK4, 615567.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044663 http://purl.bioontology.org/ontology/OMIM/MTHU000014 http://purl.bioontology.org/ontology/OMIM/MTHU044665 http://purl.bioontology.org/ontology/OMIM/MTHU036763 http://purl.bioontology.org/ontology/OMIM/MTHU044667 http://purl.bioontology.org/ontology/OMIM/MTHU044662 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU044661 http://purl.bioontology.org/ontology/OMIM/MTHU044664 http://purl.bioontology.org/ontology/OMIM/MTHU044666 http://purl.bioontology.org/ontology/OMIM/MTHU000002 See more See less
tui	T047
Gene Locus	19q13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615573
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3809965
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display