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 |
SNOMEDCT_US_2023_03_01:445431000 |
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 |