Preferred Name | Frasier syndrome | |
Synonyms |
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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]. |
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ID |
http://purl.obolibrary.org/obo/DOID_0050438 |
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comment |
OMIM mapping confirmed by DO. [SN]. |
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database_cross_reference |
UMLS_CUI:C0950122 SNOMEDCT_US_2020_03_01:445431000 OMIM:136680 MESH:D052159 NCI:C122805 GARD:2375 |
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has_obo_namespace |
disease_ontology |
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id |
DOID:0050438 |
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imported from | ||
in_subset | ||
label |
Frasier syndrome |
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notation |
DOID:0050438 |
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prefLabel |
Frasier syndrome |
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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. |
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subClassOf |
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