Kocher-Debre-Semelaigne syndrome
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
syndrome
|
| gptkbp:alsoKnownAs |
gptkb:Kocher-Debre-Semelaigne_myopathy
|
| gptkbp:associatedWith |
congenital hypothyroidism
|
| gptkbp:characterizedBy |
childhood hypothyroidism
muscular pseudohypertrophy |
| gptkbp:firstDescribed |
gptkb:Georges_Semelaigne
gptkb:Robert_Debré gptkb:Emil_Theodor_Kocher |
| https://www.w3.org/2000/01/rdf-schema#label |
Kocher-Debre-Semelaigne syndrome
|
| gptkbp:onset |
childhood
|
| gptkbp:rareDisease |
true
|
| gptkbp:symptom |
muscle weakness
macroglossia growth retardation mental retardation |
| gptkbp:treatment |
thyroid hormone replacement
|
| gptkbp:bfsParent |
gptkb:Emil_Theodor_Kocher
|
| gptkbp:bfsLayer |
5
|