Statements (12)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
gptkb:Huber_syndrome
|
| gptkbp:characterizedBy |
intellectual disability
short stature skeletal abnormalities facial dysmorphism |
| gptkbp:firstDescribed |
Huber et al.
|
| https://www.w3.org/2000/01/rdf-schema#label |
GT Huber Syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
236800
|
| gptkbp:bfsParent |
gptkb:GameTrailers
|
| gptkbp:bfsLayer |
7
|