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DO Term : syndromic microphthalmia 3 [DOID:0111801] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33.
  • synonyms:
  • anophthalmia microphthalmia esophageal atresia,
  • 206900,
  • SNOMEDCT_US_2023_03_01:698851003,
  • syndromic microphthalmia type 3,
  • anophthalmia/microphthalmia-esophageal atresia syndrome,
  • GARD:1443,
  • MCOPS3,
  • OMIM:206900,
  • UMLS_CUI:C1859773,
  • microphthalmia and esophageal atresia syndrome,
  • anophthalmia clinical with associated anomalies,
  • anophthalmia esophageal genital syndrome,
  • SOX2 anophthalmia syndrome,
  • MESH:C565948,
  • ORDO:77298,
  • AEG syndrome
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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