Search Ontology:
Human Disease
Galloway-Mowat syndrome 8
- Term ID
- DOID:0061291
- Synonyms
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- 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/
- References
- Ontology
- Human Disease ( DOID:0061291 )
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Genes Involved
Zebrafish Models