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IVIC syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007836

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. [ Orphanet:2307 ]

Synonyms: radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia IVIC syndrome oculo-oto-radial syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:147750 (Orphanet:2307/e)
  • Orphanet:2307 (OMIM:147750)
  • UMLS:C1327918 (MONDO:equivalentTo)
  • GARD:269 (MONDO:GARD)
  • MEDGEN:233003 (MONDO:equivalentTo)
  • SCTID:722019000 (MONDO:equivalentTo)
  • DOID:0111381 (MONDO:equivalentTo)
  • MESH:C535544 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

exactMatch

http://purl.obolibrary.org/obo/DOID_0111381

https://omim.org/entry/147750

http://identifiers.org/mesh/C535544

http://identifiers.org/medgen/233003

http://www.orpha.net/ORDO/Orphanet_2307

http://identifiers.org/snomedct/722019000

http://linkedlifedata.com/resource/umls/id/C1327918

has related synonym

OORS

Instituto venezolano de Investigaciones Cientificas syndrome

radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

oculootoradial syndrome

id

MONDO:0007836

seeAlso

https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome