Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
females
males |
| gptkbp:associatedWith |
gptkb:CHD7
gptkb:FGFR1 gptkb:KAL1 gptkb:PROK2 gptkb:PROKR2 |
| gptkbp:category |
genetic disorder
rare disease metabolic disorder |
| gptkbp:cause |
anosmia
hypogonadotropic hypogonadism |
| gptkbp:diagnosedBy |
genetic testing
hormone testing |
| gptkbp:firstDescribed |
gptkb:Franz_Josef_Kallmann
1944 |
| https://www.w3.org/2000/01/rdf-schema#label |
Kallmann syndrome
|
| gptkbp:inheritance |
autosomal dominant
X-linked recessive autosomal recessive |
| gptkbp:MeSH_ID |
D007627
|
| gptkbp:OMIM |
308700
|
| gptkbp:prevalence |
1 in 120,000 females
1 in 30,000 males |
| gptkbp:symptom |
infertility
hearing loss color blindness cryptorchidism cleft lip delayed puberty lack of secondary sexual characteristics micropenis |
| gptkbp:treatment |
hormone replacement therapy
gonadotropin therapy |
| gptkbp:bfsParent |
gptkb:KS
|
| gptkbp:bfsLayer |
5
|