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loading...| Preferred Name |
Frasier syndrome |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050438 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
MESH:D052159 UMLS_CUI:C0950122 OMIM:136680 SNOMEDCT_US_2022_09_01:445431000 NCI:C122805 GARD:2375 |
| 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. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050438 |
| in_subset | |
| label |
Frasier syndrome |
| notation |
DOID:0050438 |
| prefLabel |
Frasier syndrome |
| subClassOf |
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