loading...| Preferred Name |
Frasier Syndrome |
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| Synonyms |
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| Definitions |
A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C122805 |
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| ALT_DEFINITION |
A Wilms tumor 1 gene syndrome caused by a mutation in an intron of the WT1 gene that removes an alternative splice site resulting in loss of one isoform of the Wilms tumor protein. This condition is characterized by focal segmental glomerulosclerosis, gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and a high risk for the development of gonadoblastoma. |
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| code |
C122805 |
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| Contributing_Source |
NICHD PCDC |
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| definition |
A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C118467 http://purl.obolibrary.org/obo/NCIT_C177391 |
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| Is_PCDC_GCT_Permissible_Value_For_Variable | ||
| label |
Frasier Syndrome |
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| Preferred_Name |
Frasier Syndrome |
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| prefixIRI |
NCIT:C122805 |
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| prefLabel |
Frasier Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0950122 |
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| subClassOf |