paternal uniparental disomy of chromosome 7
Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).
MONDO:0700014
chromosome 7 disorder
is_a
MONDO:0700086
uniparental disomy
is_a
UPD(7)pat
exact
paternal uniparental disomy of chromosome type 7
exact