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Usher syndrome type 2

disorder
SNOMED 232058008CUI C0339534

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Abnormal ERG
Very frequent (80-99%)HP:0000512
Blind spot
Very frequent (80-99%)HP:0000575
Inner ear abnormality
Very frequent (80-99%)HP:0000359
Iris hypopigmentation
Very frequent (80-99%)HP:0007730
Retinitis pigmentosa
Very frequent (80-99%)HP:0000510
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Visual loss
Very frequent (80-99%)HP:0000572
Constriction of peripheral visual field
Frequent (30-79%)HP:0001133
Decreased visual acuity
Frequent (30-79%)HP:0007663
Difficulties with night vision
Frequent (30-79%)HP:0000662
Lens opacities
Frequent (30-79%)HP:0000518
Near sighted
Frequent (30-79%)HP:0000545
Tiredness
Frequent (30-79%)HP:0012378
Trouble sleeping
Frequent (30-79%)HP:0002360
Tunnel vision
Frequent (30-79%)HP:0007994
Abnormal contrast sensitivity
Occasional (5-29%)HP:0032036
Abnormality of balance
Occasional (5-29%)HP:0002141
Depression
Occasional (5-29%)HP:0000716
Excessive, persistent worry and fear
Occasional (5-29%)HP:0000739
Loss in color vision
Occasional (5-29%)HP:0000551
Interictal vestibular dysfunction
Very rare (1-4%)HP:0001751

Quick Facts

SNOMED CT
232058008
UMLS CUI
C0339534
Fully Specified Name
Usher syndrome type 2 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
21
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.