Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affectsOrgan |
gptkb:thyroid
gptkb:cancer brain |
| gptkbp:alsoKnownAs |
BLT syndrome
|
| gptkbp:associatedWith |
developmental delay
interstitial lung disease thyroid dysgenesis |
| gptkbp:firstDescribed |
1998
|
| https://www.w3.org/2000/01/rdf-schema#label |
brain-lung-thyroid syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
NKX2-1 gene
|
| gptkbp:OMIM |
610978
|
| gptkbp:symptom |
respiratory distress
hypothyroidism chorea |
| gptkbp:bfsParent |
gptkb:NKX2-1
|
| gptkbp:bfsLayer |
7
|