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DO Term : syndromic microphthalmia 5 [DOID:0111806] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.
  • synonyms:
  • 610125,
  • SNOMEDCT_US_2023_03_01:718761007,
  • GARD:3692,
  • UMLS_CUI:C1864690,
  • syndromic microphthalmia/anophthalmia due to OTX2 mutation,
  • OMIM:610125,
  • syndromic microphthalmia type 5,
  • ORDO:178364,
  • MCOPS5,
  • MESH:C566441
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents