FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term short stature, hearing loss, retinitis pigmentosa, and distinctive facies ID (Ontology) DOID:0081175 (Human Disease)
Definition A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34.
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 short stature, hearing loss, retinitis pigmentosa, and distinctive facies      11      5      1
 ameliorates | short stature, hearing loss, retinitis pigmentosa, and distinctive facies       4       --       --
 for disease ribbon | short stature, hearing loss, retinitis pigmentosa, and distinctive facies       --       1       --
 model of | short stature, hearing loss, retinitis pigmentosa, and distinctive facies       8      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 short stature, hearing loss, retinitis pigmentosa, and distinctive facies  17 rec.
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Is a autosomal recessive disease
syndrome
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MIM:617763
ORDO:494439