has material basis in germline mutation in TBC1D24 syndromic disease hereditary disease DOORS syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6749 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6878 https://rarediseases.info.nih.gov/diseases/1685/deafness-onychodystrophy-osteodystrophy-and-mental-retardation-syndrome https://www.malacards.org/card/deafness_onychodystrophy_osteodystrophy_impaired_intellectual_development_and_seizures_syndrome UMLS:C0795934 Eronen syndrome deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome deafness onychodystrophy osteodystrophy and intellectual disability syndrome brachydactyly due to absence of distal phalanges 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. OMIM:220500 NORD:1058 DOORS syndrome Orphanet:79500 door syndrome MEDGEN:208648 DOORS SCTID:719800009 deafness onychodystrophy osteodystrophy and mental retardation syndrome drc syndrome autosomal recessive deafness-onychodystrophy syndrome deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome GARD:0001685 deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome MONDO:0009079 deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome DOID:0111627 MESH:C563052