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DO Term : blepharophimosis-impaired intellectual development syndrome [DOID:0081442] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.

synonyms:
619293,
SMARCA2-related blepharophimosis-intellectual disability syndrome,
ORDO:637013,
OMIM:619293

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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