Search Ontology:
Human Disease

X-linked retinitis pigmentosa and sinorespiratory infections

Term ID
DOID:0112124
Synonyms
  • primary ciliary dyskinesia-retinitis pigmentosa syndrome
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:0112124 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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