JSON

Usher syndrome type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0016484

A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa. [ NCIT:C126328 ]

Synonyms: Usher syndrome type 2 USH2

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0339534 (Orphanet:231178/e)
  • SCTID:232058008 (MONDO:equivalentTo)
  • DOID:0110827 (MONDO:equivalentTo)
  • Orphanet:231178 (MONDO:equivalentTo)
  • NCIT:C126328 (MONDO:equivalentTo)
  • ICD10CM:H35.5 (Orphanet:231178/ntbt)
  • GARD:5440 (Orphanet:231178)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/NCIT_C126328

http://www.orpha.net/ORDO/Orphanet_231178

http://linkedlifedata.com/resource/umls/id/C0339534

http://identifiers.org/snomedct/232058008

http://purl.obolibrary.org/obo/DOID_0110827

id

MONDO:0016484

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0016484

Term relations

Subclass of: