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DO Term : syndromic microphthalmia 13 [DOID:0111811] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.

synonyms:
300915,
OMIM:300915,
MCOPS13,
colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation,
ORDO:431140,
Maine microphthalmos,
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

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

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