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Metadata
ID DOID:0061290
PURL http://purl.obolibrary.org/obo/DOID_0061290 Copy
Name Galloway-Mowat syndrome 7
Definition A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
https://pubmed.ncbi.nlm.nih.gov/28280135/
Xrefs

MIM:618348

Parent Relationships

is_a Galloway-Mowat syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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