Preferred Name |
Frasier syndrome |
|
Synonyms |
|
|
Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050438 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
UMLS_CUI:C0950122 OMIM:136680 MESH:D052159 SNOMEDCT_US_2023_03_01:445431000 NCI:C122805 GARD:2375 |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050438 |
|
in_subset | ||
label |
Frasier syndrome |
|
notation |
DOID:0050438 |
|
prefLabel |
Frasier syndrome |
|
textual 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. |
|
subClassOf |
Create mapping