DOORS syndrome
DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
DOORS
related
DOORS syndrome
exact
Digitorenocerebral syndrome
related
autosomal recessive deafness-onychodystrophy syndrome
exact
deafness onychodystrophy osteodystrophy and intellectual disability syndrome
related
deafness onychodystrophy osteodystrophy and mental retardation syndrome
related
deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome
related
deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
related
deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
exact
deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
exact
deafness-onychoosteodystrophy-intellectual disability syndrome
exact
door syndrome
exact