Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:alsoKnownAs |
gptkb:Sex_reversal,_kidney,_adrenal,_and_lung_dysgenesis_syndrome
|
gptkbp:characterizedBy |
sex reversal
adrenal dysgenesis kidney dysgenesis lung dysgenesis |
gptkbp:firstDescribed |
2009
|
gptkbp:hasGeneticBasis |
homozygous loss-of-function mutation in WNT4
|
https://www.w3.org/2000/01/rdf-schema#label |
SERKAL syndrome
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:mutationAssociatedWith |
gptkb:WNT4_gene
|
gptkbp:OMIM |
611812
|
gptkbp:symptom |
gptkb:46,XX_sex_reversal
adrenal insufficiency pulmonary hypoplasia renal agenesis |
gptkbp:bfsParent |
gptkb:WNT4
|
gptkbp:bfsLayer |
7
|