facio-cutaneous-skeletal syndrome
GPTKB entity
Statements (12)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alternativeName |
gptkb:FCS_syndrome
|
| gptkbp:firstDescribed |
gptkb:Fryns_et_al.
1977 |
| https://www.w3.org/2000/01/rdf-schema#label |
facio-cutaneous-skeletal syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
211800
|
| gptkbp:symptom |
skeletal abnormalities
cutaneous anomalies facial dysmorphism |
| gptkbp:bfsParent |
gptkb:Costello_syndrome
|
| gptkbp:bfsLayer |
6
|