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Usher syndrome type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0010168

A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. [ NCIT:C126327 ]

Synonyms: USH1 US1 retinitis pigmentosa and congenital deafness Usher syndrome, type 1 Usher syndrome type 1

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:231169 (OMIM:276900)
  • GARD:5435 (Orphanet:231169)
  • ICD10CM:H35.5 (Orphanet:231169/ntbt)
  • DOID:0110826 (MONDO:equivalentTo)
  • SCTID:232057003 (MONDO:equivalentTo)
  • NCIT:C126327 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0110826

http://www.orpha.net/ORDO/Orphanet_231169

http://identifiers.org/snomedct/232057003

http://purl.obolibrary.org/obo/NCIT_C126327

has related synonym

USHER syndrome, type I

Usher syndrome, type Ia, formerly

Usher syndrome, type Ia

Usher syndrome, type I, French variety

Usher syndrome, type I, French variety, formerly

Usher syndrome, type 1A

USH1A

Usher syndrome, type 1B

id

MONDO:0010168

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010168

Term relations

Subclass of: