Frasier syndrome

Term ID

DOID:0050438

Synonyms

Definition

A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. https://ghr.nlm.nih.gov/condition/frasier-syndrome

References

• GARD:2375
• MESH:D052159
• MIM:136680
• NCI:C122805
• SNOMEDCT_US_2023_03_01:445431000
• UMLS_CUI:C0950122

Ontology

Human Disease   ( DOID:0050438 )