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Metadata
ID DOID:0111801
Name syndromic microphthalmia 3
Definition A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in SOX2 on chromosome 3q26.33.
https://www.ncbi.nlm.nih.gov/pubmed/12612584, https://www.ncbi.nlm.nih.gov/pubmed/20803647
Xrefs

GARD:1443

MESH:C565948

OMIM:206900

ORDO:77298

SNOMEDCT_US_2020_09_01:698851003

UMLS_CUI:C1859773

Synonyms

AEG syndrome [EXACT]

anophthalmia clinical with associated anomalies [EXACT]

anophthalmia esophageal genital syndrome [EXACT]

anophthalmia microphthalmia esophageal atresia [EXACT]

anophthalmia/microphthalmia-esophageal atresia syndrome [EXACT]

MCOPS3 [EXACT]

microphthalmia and esophageal atresia syndrome [EXACT]

SOX2 anophthalmia syndrome [EXACT]

syndromic microphthalmia type 3 [EXACT]

Parent Relationships

is_a syndromic microphthalmia

is_a autosomal dominant disease

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