46,XX testicular disorder of sex development
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
males
|
| gptkbp:alsoKnownAs |
gptkb:de_la_Chapelle_syndrome
|
| gptkbp:causedBy |
SRY gene translocation
|
| gptkbp:chromosomalAbnormality |
46,XX karyotype
|
| gptkbp:diagnosedBy |
karyotype analysis
genetic testing |
| gptkbp:firstDescribed |
gptkb:Albert_de_la_Chapelle
1964 |
| https://www.w3.org/2000/01/rdf-schema#label |
46,XX testicular disorder of sex development
|
| gptkbp:ICD-10_code |
Q56.4
|
| gptkbp:inheritance |
not inherited
|
| gptkbp:MeSH_ID |
D013727
|
| gptkbp:OMIM |
400045
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
infertility
hypogonadism gynecomastia small testes male phenotype |
| gptkbp:treatment |
testosterone replacement therapy
|
| gptkbp:bfsParent |
gptkb:SRY_gene
|
| gptkbp:bfsLayer |
7
|