syndromic disease autosomal recessive disease Usher syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6750 https://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/usher_syndrome NCIT:C85217 icd11.foundation:1452641873 A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. Graefe-Usher syndrome ush MedDRA:10063396 Orphanet:886 Usher's syndrome OMIMPS:276900 DOID:0050439 deafness-retinitis pigmentosa syndrome This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'nervous system disorder' (MONDO:0005071) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) dystrophia retinae pigmentosa-dysostosis syndrome MONDO:0019501 Hallgren syndrome USH retinitis pigmentosa-deafness syndrome NORD:1816 MESH:D052245 GARD:0007843 NANDO:1200941