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Metadata
ID DOID:0060364
Name Galloway-Mowat syndrome 1
Definition A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome, https://pubmed.ncbi.nlm.nih.gov/26123727/
Xrefs

OMIM:251300

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Galloway syndrome [EXACT]

microcephaly, hiatal hernia and nephrotic syndrome [EXACT]

nephrosis-microcephaly syndrome [EXACT]

nephrosis-neuronal dysmigration syndrome [EXACT]

Parent Relationships

is_a Galloway-Mowat syndrome

is_a autosomal recessive disease

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