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DO Term : isolated microphthalmia 6 [DOID:0060835] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
  • synonyms:
  • ICD10CM:Q11.0,
  • MCOP6,
  • 613517,
  • OMIM:613517,
  • ORDO:2542,
  • posterior nonsyndromic microphthalmia
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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