Statements (12)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alternativeName |
gptkb:Chondrodysplasia_with_mental_retardation,_Huber_type
|
| https://www.w3.org/2000/01/rdf-schema#label |
Huber Syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
236500
|
| gptkbp:symptom |
intellectual disability
skeletal abnormalities facial dysmorphism |
| gptkbp:wasFirstDescribedBy |
Huber et al.
|
| gptkbp:wasFirstDescribedInYear |
1979
|
| gptkbp:bfsParent |
gptkb:GameTrailers
|
| gptkbp:bfsLayer |
7
|