autosomal dominant disorder


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Related to autosomal dominant disorder: Hereditary diseases, Genetic diseases, Genetic disorders
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Noun1.autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosomeautosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
Huntington's chorea, Huntington's disease - hereditary disease; develops in adulthood and ends in dementia
malignant hyperthermia - hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
Marfan's syndrome - an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
neurofibromatosis, von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
osteogenesis imperfecta - autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
References in periodicals archive ?
Since it is most often an inherited, autosomal dominant disorder, FPL can be passed down from one generation to the next in affected families.
Pachydermoperiostosis is an autosomal dominant disorder characterized by periosteal new bone formation, and involves the distal extremities.
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.
This autosomal dominant disorder is characterized by intestinal polyposis, multiple osteomas, cutaneous fibromas, epidermal cysts, and impacted teeth.
Acute intermittent porphyria (AIP) [1] (MIM 176000) is a low-penetrance, autosomal dominant disorder caused by decreased activity of the third enzyme in the pathway of heme biosynthesis, hydroxymethylbilane synthase (HMBS).
FAP is an autosomal dominant disorder caused by a mutation of the APC gene, which is located on chromosome 5.
Juvenile polyposis (JP or JPS for juvenile polyposis syndrome) is an autosomal dominant disorder that often presents in childhood.
Char syndrome is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and abnormalities of the fifth finger of the hand (1).
The autosomal dominant disorder is caused by a mutation in one of four DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2.
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.
It has been reported that anywhere from 50% to 90% of pulmonary AVMs are associated with hereditary hemorrhagic telangiectasia (HHT), an unusual autosomal dominant disorder also referred to as Rendu-Osler-Weber syndrome.
BOS is an autosomal dominant disorder that results from the association of osteopoikilosis with disseminated connective-tissue nevi and manifests as skin lesions.

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