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DO Term : syndromic microphthalmia 1 [DOID:0111799] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28.

synonyms:
syndromic microphthalmia 4,
GARD:87,
Lenz microphthalmia,
ORDO:568,
OMIM:309800,
ORDO:85275,
GARD:5066,
UMLS_CUI:C1844948,
Lenz dysplasia,
SNOMEDCT_US_2023_03_01:717222003,
309800,
MCOPS1,
Lenz type microphthalmia,
DOID:0111810

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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