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Metadata
ID DOID:0050438
Name Frasier syndrome
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
Xrefs

GARD:2375

MESH:D052159

MIM:136680

NCI:C122805

SNOMEDCT_US_2023_03_01:445431000

UMLS_CUI:C0950122

Subsets

DO_rare_slim

NCIthesaurus

Parent Relationships

is_a autosomal dominant disease

is_a syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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