FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Usher syndrome ID (Ontology) DOID:0050439 (Human Disease)
Definition A syndrome characterized by a combination of hearing loss and visual impairment.
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DO.org
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Human Disease Models (FBhh)  DOID       2
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 Full annotation statements 
Relevant FlyBase reports
 Genes Human Disease Models
 Usher syndrome       1      2
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Usher syndrome  13 rec.
                                  |__retinitis pigmentosa-deafness syndrome
                                  |__Usher syndrome type 1 8 rec.
                                  |   |__Usher syndrome type 1B 1 rec.
                                  |   |__Usher syndrome type 1C 1 rec.
                                  |   |__Usher syndrome type 1D 2 rec.
                                  |   |__Usher syndrome type 1E
                                  |   |__Usher syndrome type 1F 1 rec.
                                  |   |__Usher syndrome type 1G 1 rec.
                                  |   |__Usher syndrome type 1H
                                  |   |__Usher syndrome type 1J 2 rec.
                                  |   |__Usher syndrome type 1K
                                  |__Usher syndrome type 2 2 rec.
                                  |   |__Usher syndrome type 2A 2 rec.
                                  |   |__Usher syndrome type 2C 2 rec.
                                  |   |__Usher syndrome type 2D 1 rec.
                                  |__Usher syndrome type 3 2 rec.
                                      |__Usher syndrome type 3A 1 rec.
                                      |__Usher syndrome type 3B 1 rec.
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Is a autosomal recessive disease
syndrome
Part of
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Synonyms
Secondary IDs
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GARD:7843
MESH:D052245
MIM:PS276900
NCI:C85217
ORDO:886
SNOMEDCT_US_2023_03_01:57838006
UMLS_CUI:C0271097