Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:46,XX_testicular_disorder_of_sex_development
gptkb:de_la_Chapelle_syndrome |
| gptkbp:causedBy |
SRY gene translocation
|
| gptkbp:chromosomal_pattern |
46,XX
|
| gptkbp:diagnosedBy |
genetic testing
karyotyping |
| gptkbp:firstDescribed |
gptkb:Albert_de_la_Chapelle
1964 |
| gptkbp:hasPhenotype |
male
|
| https://www.w3.org/2000/01/rdf-schema#label |
46,XX sex reversal
|
| gptkbp:ICD-10_code |
Q56.4
|
| gptkbp:inheritance |
usually de novo
|
| gptkbp:OMIM |
400045
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
disorders of sex development
|
| gptkbp:symptom |
infertility
gynecomastia male external genitalia small testes |
| gptkbp:bfsParent |
gptkb:WNT4
|
| gptkbp:bfsLayer |
7
|