Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:rare_disease
|
| gptkbp:affects |
skeletal system
|
| gptkbp:alsoKnownAs |
Metaphyseal chondrodysplasia, Huber type
|
| gptkbp:characterizedBy |
gptkb:metaphyseal_dysplasia
gptkb:brachydactyly short stature bowed legs |
| gptkbp:firstDescribed |
gptkb:Huber
1979 |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
250950
|
| gptkbp:bfsParent |
gptkb:GT_Huber_Syndrome
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Huber syndrome
|