Search Ontology:
Human Disease

nephrotic syndrome type 18

Term ID
DOID:0080393
Synonyms
Definition
A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. https://www.ncbi.nlm.nih.gov/pubmed/30179222
References
Ontology
Human Disease   ( DOID:0080393 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models