anophthalmia-esophageal-genital syndrome
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
gptkb:genetic_disorder |
| gptkbp:affects |
digestive system
ocular system genitourinary system |
| gptkbp:causedBy |
mutation in SOX2 gene
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
206900
|
| gptkbp:symptom |
anophthalmia
genital anomalies esophageal atresia |
| gptkbp:synonym |
SOX2 anophthalmia syndrome
AEG syndrome |
| gptkbp:bfsParent |
gptkb:SOX2_gene
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
anophthalmia-esophageal-genital syndrome
|