Diseases
Deafness progressive cataract autosomal dominant
Deafness progressive cataract autosomal dominant: A rare dominantly inherited disorder characterized by deafness and progressive cataracts. The deafness is caused by degeneration of a part of the inner ear . The hearing loss can start in the 3rd decade of life and cataracts occur before the 5th decade.
Deafness skeletal dysplasia lip granuloma
Deafness - skeletal dysplasia - lip granuloma: A very rare syndrome characterized mainly by deafness, skeletal abnormalities, mental retardation and full lips.
Deafness white hair contractures papillomas
Deafness white hair contractures papillomas (medical condition): A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
Deafness- autosomal dominant nonsyndromic sensorineural 23
Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition.
Deafness- autosomal dominant nonsyndromic sensorineural 23
Deafness, autosomal dominant nonsyndromic sensorineural 23: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition.
Deafness- autosomal dominant nonsyndromic sensorineural 24
Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 24 involves a defect on chromosome 4q35-qter
Deafness- autosomal dominant nonsyndromic sensorineural 3
Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 3 involves a defect in the connexin-26 gene on chromosome 13q11-q12.
Deafness- autosomal dominant nonsyndromic sensorineural 53
Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 53 involves a defect on chromosome 14q11.2-q12.
Deafness- autosomal recessive 51
Deafness- autosomal recessive 55
Deafness- congenital onychodystrophy- recessive form
A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
Deafness- isolated- due to mitochondrial transmission
Inherited hearing loss that occurs without any other symptoms and is caused by minute changes in mitochondrial DNA.
Deafness- neurosensory nonsyndromic recessive- DFN
Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The degree of deafness is usually severe and onset is variable but is generally well within the first decade.
Deafness- neurosensory- autosomal recessive 47
Deafness- X-linked- DFN
A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers.
Deal Barratt Dillon syndrome
A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
Defect in synthesis of adenosylcobalamin
A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning.
Defective apolipoprotein B-100
A rare inherited condition where defective apolipoprotein B-100 impairs the metabolism of cholesterol and results in high blood cholesterol which in turn increases the risk of cardiovascular disease.
Deficiency of the Interleukin-1 Receptor Antagonist
Degenerative motor system disease
Any of a number of condition characterized by destruction of nerves that carry signals to muscles (motor neurons) and results in various muscle problems. The nerve destruction is often progressive leading to increasingly severe muscle problems.
Degenerative optic myopathy
Degos ‘en cocarde’ erythrokeratoderma
A rare condition characterized by the presence at birth of fixed red thickened plaques on skin over joints.
Degos disease
A rare disorder where lesions caused by blood vessel inflammation and blockage form on the skin and eventually in the internal organs, especially in the small intestine.
Dehydratase deficiency
A very rare condition involving a deficiency of the enzyme called dehydratase. It is usually asymptomatic and often associated with high blood phenylalanine levels.
Delayed Graft Function
Dementia- familial Danish
A rare inherited form of dementia caused by the deposit of abnormal substances in the brain, spinal cord and retina and the degeneration of brain tissue. Deafness and cataracts usually started in the 20's with severe deafness occurring by the age of 45. Movement problems usually started after the age of 40 with death occurring in the 5th or 6th decade.
Dengue fever
An acute viral disease characterized by fever, rash and myalgia and caused by a flavivirus which is transmitted by mosquitoes.
Dennis Fairhurst Moore syndrome
A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.
Dens in dente and palatal invaginations
An inherited tooth anomaly where the back of the front teeth are abnormally grooved which increases the risk of tooth decay. Dens in dente is also present which is a developmental tooth abnormality where there appears to be a small tooth at the back of the base of a front tooth. Generally this condition occurs in the top lateral incisors.