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cataract 46 juvenile-onset

^ http://purl.obolibrary.org/obo/MONDO_0008925

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • Orphanet:98987 (OMIM:212500)
  • OMIM:212500 (MONDO:equivalentTo)
  • MESH:C538286 (MONDO:equivalentTo)
  • DOID:0110243 (MONDO:equivalentTo)
  • GARD:0001150 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
CTRCT46 [ DOID:0110243 ]

comment

Not in the OMIM series.

definition

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0110243, https://omim.org/entry/212500, http://identifiers.org/mesh/C538286

has exact synonym

early-onset non-syndromic cataract caused by mutation in LEMD2, juvenilae cataract Hutterite type, LEMD2 early-onset non-syndromic cataract, CTRCT46

has related synonym

cataract Hutterite type, cataract 46, juvenile-onset, cataract, congenital or juvenile, cataract, juvenile, Hutterite type

id

MONDO:0008925

seeAlso

https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type

Term relations