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DO Term : X-linked retinitis pigmentosa and sinorespiratory infections [DOID:0112124] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4.

synonyms:
300455,
primary ciliary dyskinesia-retinitis pigmentosa syndrome,
ORDO:247522,
OMIM:300455

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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