Usher syndrome
MONDO:0019501Mondo
Findings
No curated finding names Usher syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.
Definition from the Mondo Disease Ontology (MONDO:0019501), read 2026-09-29. CC BY 4.0.
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal electroretinogramHPOHP:0000512
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Abnormal vestibular functionHPOHP:0001751
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- NyctalopiaHPOHP:0000662
- Very frequent (80% to 99% of cases)
- Progressive visual lossHPOHP:0000529
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Vestibular areflexiaHPOHP:0008568
- Very frequent (80% to 99% of cases)
- Visual field defectHPOHP:0001123
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
Show the remaining 25
- High hypermetropiaHPOHP:0008499
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system physiologyHPOHP:0011025
- Occasional (5% to 29% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Occasional (5% to 29% of cases)
- Abnormality of dental colorHPOHP:0011073
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: Usher syndrome
- Also called
- USHUsher's syndrome