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DO Term : syndromic microphthalmia 12 [DOID:0111800] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2.
  • synonyms:
  • OMIM:615524,
  • microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects,
  • MCOPS12,
  • 615524,
  • GARD:13235
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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