Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb: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
|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
SERKAL syndrome
|