"Usher Syndromes" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
| Descriptor ID |
D052245
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| MeSH Number(s) |
C09.218.458.341.186.500.500 C09.218.458.341.887.886 C10.597.751.418.341.186.500.500 C10.597.751.418.341.887.886 C10.597.751.941.162.625.500 C11.768.585.658.500.813 C11.966.075.375.500 C16.131.077.299.500 C16.320.290.684.500 C23.888.592.763.393.341.887.886
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| Concept/Terms |
Usher Syndromes- Usher Syndromes
- Syndrome, Usher
- Syndromes, Usher
- Usher Syndrome
- Usher's Syndrome
- Syndrome, Usher's
- Ushers Syndrome
- Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
- Dystrophia Retinae Pigmentosa Dysostosis Syndrome
- Graefe-Usher Syndrome
- Graefe Usher Syndrome
- Syndrome, Graefe-Usher
- Hallgren Syndrome
- Syndrome, Hallgren
- Retinitis Pigmentosa-Deafness Syndrome
- Retinitis Pigmentosa Deafness Syndrome
- Retinitis Pigmentosa-Deafness Syndromes
- Syndrome, Retinitis Pigmentosa-Deafness
- Syndromes, Retinitis Pigmentosa-Deafness
- Deafness-Retinitis Pigmentosa Syndrome
- Deafness Retinitis Pigmentosa Syndrome
- Deafness-Retinitis Pigmentosa Syndromes
- Pigmentosa Syndromes, Deafness-Retinitis
- Syndrome, Deafness-Retinitis Pigmentosa
- Syndromes, Deafness-Retinitis Pigmentosa
Usher Syndrome, Type I- Usher Syndrome, Type I
- Usher Syndrome, Type 1A
- Retinitis Pigmentosa And Congenital Deafness
- Usher Syndrome, Type 1
- Usher Syndrome, Type I, French Variety
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Below are MeSH descriptors whose meaning is more general than "Usher Syndromes".
Below are MeSH descriptors whose meaning is more specific than "Usher Syndromes".
This graph shows the total number of publications written about "Usher Syndromes" by people in this website by year, and whether "Usher Syndromes" was a major or minor topic of these publications.
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Below are the most recent publications written about "Usher Syndromes" by people in Profiles.
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The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1. Nat Commun. 2023 02 21; 14(1):972.