anophthalmia/microphthalmia-esophageal atresia syndrome
http://purl.obolibrary.org/obo/MONDO_0008799
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. [ Orphanet:77298 ]
Term info
- OMIM:206900 (Orphanet:77298/e)
- SCTID:698851003 (MONDO:equivalentTo)
- DOID:0111801 (MONDO:equivalentTo)
- GARD:0001443 (MONDO:equivalentTo)
- Orphanet:77298 (OMIM:206900)
- ICD9:758.5 (MONDO:relatedTo)
ordo_malformation_syndrome
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.
http://purl.obolibrary.org/obo/Orphanet_77298, http://identifiers.org/snomedct/698851003, https://omim.org/entry/206900, http://purl.obolibrary.org/obo/DOID_0111801
syndromic microphthalmia type 3, microphthalmia, syndromic type 3, anophthalmia/microphthalmia-esophageal atresia syndrome, MCOPS3
anophthalmia esophageal genital syndrome, anophthalmia microphthalmia esophageal atresia, anophthalmia-esophageal-genital syndrome, anophthalmia, clinical, with associated anomalies, optic nerve hypoplasia and abnormalities of the central nervous system, SOX2-related eye disorders, microphthalmia and esophageal atresia syndrome, microphthalmia, syndromic 3, syndromic microphthalmia, type 3, Aeg syndrome, SOX2 anophthalmia syndrome, anophthalmia clinical with associated anomalies
MONDO:0008799