Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
cryptophthalmos-syndactyly syndrome
|
| gptkbp:category |
genetic disorder
|
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
1962
George R. Fraser |
| https://www.w3.org/2000/01/rdf-schema#label |
Fraser syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
high (especially in severe cases)
|
| gptkbp:mutationAssociatedWith |
FRAS1 gene
FREM2 gene GRIP1 gene |
| gptkbp:OMIM |
219000
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
syndactyly
renal agenesis cryptophthalmos genital malformations laryngeal malformations |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:FREM1
|
| gptkbp:bfsLayer |
7
|