Visualize Submit Comment
Metadata
ID DOID:0061291
PURL http://purl.obolibrary.org/obo/DOID_0061291 Copy
Name Galloway-Mowat syndrome 8
Definition A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42.
https://pubmed.ncbi.nlm.nih.gov/30427554/
Xrefs

MIM:618349

Parent Relationships

is_a Galloway-Mowat syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker