nephrotic syndrome type 14

Term ID

DOID:0080265

Synonyms

Definition

A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. (3)

References

MIM:617575

Ontology

Human Disease ( DOID:0080265 )

Relationships

is a type of: autosomal recessive disease familial nephrotic syndrome

autosomal recessive disease familial nephrotic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models