Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615861 http://purl.bioontology.org/ontology/OMIM/615861
Preferred Name	NEPHROTIC SYNDROME, TYPE 10
Synonyms	NPHS10
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NPHS10
prefLabel	NEPHROTIC SYNDROME, TYPE 10
Gene Symbol	EMP2 NPHS10
Scope Statement	Onset in early childhood [MISCELLANEOUS] Responsive to medical treatment [MISCELLANEOUS] Caused by mutation in the epithelial membrane protein 2 gene (EMP2, 602334.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU055287 http://purl.bioontology.org/ontology/OMIM/MTHU052704 http://purl.bioontology.org/ontology/OMIM/MTHU036764 http://purl.bioontology.org/ontology/OMIM/MTHU055288
tui	T047
Gene Locus	16p13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615861
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4014507
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display