Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: keratoconus (disease) caused by mutation in VSX1 keratoconus type 1 VSX1 keratoconus (disease) keratoconus 1
Term information
- MESH:C563649 (MONDO:equivalentTo)
- UMLS:C1835677 (MONDO:equivalentTo)
- OMIM:148300 (MONDO:equivalentTo)
- MEDGEN:372103 (MONDO:equivalentTo)
gard_rare, rare, nord_rare
https://omim.org/entry/148300
http://linkedlifedata.com/resource/umls/id/C1835677
http://identifiers.org/mesh/C563649
http://identifiers.org/medgen/372103