anophthalmia-esophageal-genital syndrome

URI: https://gptkb.org/entity/anophthalmia-esophageal-genital_syndrome
GPTKB entity
Statements (16)
Predicate Object
gptkbp:instanceOf genetic disorder
syndrome
gptkbp:affects digestive system
ocular system
genitourinary system
gptkbp:causedBy mutation in SOX2 gene
https://www.w3.org/2000/01/rdf-schema#label anophthalmia-esophageal-genital syndrome
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