Frasier Syndrome

Preferred Label : Frasier Syndrome;

NCIt 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.;

Alternative definition : NICHD: 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.;

Details

Origin ID

C122805;

UMLS CUI

C0950122;

Automatic exact mappings (from CISMeF team)
- Frasier syndrome [ICD-11 More detail]
- Frasier syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Frasier syndrome [ORDO Disease]
- Frasier syndrome [OMIM Phenotype]
- Frasier syndrome [DO Concept]
- Frasier syndrome (disorder) [SNOMED CT concept]
- frasier syndrome [MeSH concept]
- frasier syndrome [MeSH Descriptor]
DO Cross reference
- Frasier syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frasier syndrome [ORDO Disease]
- Frasier syndrome [DO Concept]
- Frasier syndrome [OMIM Phenotype]
- Frasier syndrome [MedDRA Preferred Term]
- Frasier syndrome (disorder) [SNOMED CT concept]
- frasier syndrome [MeSH Descriptor]
- frasier syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GCT Authorized Value Terminology [NCIt concept]
- GCT Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_mapped_to_gene
- WT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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