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anophthalmia/microphthalmia-esophageal atresia syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
Uniprot Description A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Mondo Term and Equivalent IDs
MONDO:0008799:  anophthalmia/microphthalmia-esophageal atresia syndrome
GARD:0001443: 
Orphanet:77298: 
SCTID:698851003: