FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked retinitis pigmentosa and sinorespiratory infections ID (Ontology) DOID:0112124 (Human Disease)
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.
Also Known As "primary ciliary dyskinesia-retinitis pigmentosa syndrome"
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 Genes
 X-linked retinitis pigmentosa and sinorespiratory infections       3
 for disease ribbon | X-linked retinitis pigmentosa and sinorespiratory infections       3
 model of | X-linked retinitis pigmentosa and sinorespiratory infections       3
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease__
disease                         |
 |__syndrome____________________|
                                X-linked retinitis pigmentosa and sinorespiratory infections  3 rec.
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Is a X-linked monogenic disease
syndrome
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Synonyms
  • "primary ciliary dyskinesia-retinitis pigmentosa syndrome" EXACT
Secondary IDs
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MIM:300455
ORDO:247522