Chondrodysplasia with mental retardation, Huber type
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alternativeName |
gptkb:Huber_syndrome
|
| gptkbp:describedBy |
Huber et al., 1976
|
| gptkbp:hasFeature |
short stature
skeletal abnormalities facial dysmorphism |
| https://www.w3.org/2000/01/rdf-schema#label |
Chondrodysplasia with mental retardation, Huber type
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
250250
|
| gptkbp:symptom |
intellectual disability
chondrodysplasia |
| gptkbp:bfsParent |
gptkb:Huber_Syndrome
|
| gptkbp:bfsLayer |
8
|