FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Usher syndrome type 2 ID (Ontology) DOID:0110827 (Human Disease)
Definition An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
Also Known As "USH2"
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DO.org
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Spanning Tree (Parents/Children)
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autosomal recessive disease__
syndrome_____________________|
                             Usher syndrome
                              |__Usher syndrome type 2  2 rec.
                                  |__Usher syndrome type 2A 2 rec.
                                  |__Usher syndrome type 2C 2 rec.
                                  |__Usher syndrome type 2D 1 rec.
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Is a Usher syndrome
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Synonyms
  • "USH2" EXACT OMO:0003012
Secondary IDs
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MESH:D052245
NCI:C126328
ORDO:231178
SNOMEDCT_US_2021_09_01:232058008