Deafness onychodystrophy osteodystrophy and mental retardation syndrome
Other Names for this Disease
- DOOR syndrome
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is a rare genetic disorder that is usually recognized shortly after birth. The term DOOR is an acronym with each letter representing a common feature in affected individuals: (D)eafness due to a defect of the inner ear or auditory nerve; (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound mental (R)etardation, which is now referred to as intellectual disability. In some cases, individuals may also experience seizures. This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.Deafness onychodystrophy osteodystrophy and mental retardation (DOOR) syndrome
Last updated: 11/3/2011
- DOOR syndrome. National Organization for Rare Disorders (NORD). 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/818/viewAbstract. Accessed 11/3/2011.
- Genetics Home Reference (GHR) contains information on Deafness onychodystrophy osteodystrophy and mental retardation syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Deafness onychodystrophy osteodystrophy and mental retardation syndrome. Click on the link to view a sample search on this topic.