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Metadata
DOID DOID:0060364
Name Galloway-Mowat syndrome
Definition An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.
https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/20083416, https://www.ncbi.nlm.nih.gov/pubmed/26123727
Xrefs

GARD:65

MESH:C537548

NCI:C132195

OMIM:251300

ORDO:2065

UMLS_CUI:C0795949

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]

Relationships

is_a autosomal recessive disease

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