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Usher syndrome type 3

disorder
SNOMED 1010610007CUI C1568248

Overview

Usher syndrome type 3 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal cochlea morphology
Very frequent (80-99%)HP:0000375
Abnormal ERG
Very frequent (80-99%)HP:0000512
Blind spot
Very frequent (80-99%)HP:0000575
Difficulties with night vision
Very frequent (80-99%)HP:0000662
Iris hypopigmentation
Very frequent (80-99%)HP:0007730
Retinitis pigmentosa
Very frequent (80-99%)HP:0000510
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Vestibulopathy
Very frequent (80-99%)HP:0001756
Visual loss
Very frequent (80-99%)HP:0000572
Anxiety disease
Occasional (5-29%)HP:0000739
Depression
Occasional (5-29%)HP:0000716
Interictal vestibular dysfunction
Occasional (5-29%)HP:0001751

Quick Facts

SNOMED CT
1010610007
UMLS CUI
C1568248
Fully Specified Name
Retinitis pigmentosa-deafness syndrome type 3 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
12
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.