Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
males predominantly
|
| gptkbp:alternativeName |
Kallmann syndrome type 1
|
| gptkbp:causedBy |
mutation in ANOS1 gene
|
| gptkbp:containsGene |
gptkb:ANOS1
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked Kallmann syndrome
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:namedAfter |
gptkb:Franz_Josef_Kallmann
|
| gptkbp:OMIM |
308700
|
| gptkbp:onset |
puberty
|
| gptkbp:symptom |
infertility
cleft lip cleft palate anosmia delayed puberty hypogonadotropic hypogonadism mirror movements (synkinesia) unilateral renal agenesis |
| gptkbp:treatment |
hormone replacement therapy
fertility treatment |
| gptkbp:bfsParent |
gptkb:KAL1
|
| gptkbp:bfsLayer |
7
|