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Items: 18

1.

Complete trisomy 21 syndrome

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]

MedGen UID:
4385
Concept ID:
C0013080
Congenital Abnormality; Disease or Syndrome
2.

Alzheimer's disease

Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., =2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [from GeneReviews]

MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
3.

Alzheimer disease, type 3

Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years. [from GeneReviews]

MedGen UID:
334304
Concept ID:
C1843013
Disease or Syndrome
4.

Alzheimer disease, type 4

Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years. [from GeneReviews]

MedGen UID:
376072
Concept ID:
C1847200
Disease or Syndrome
5.

Alzheimer disease, type 2

Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood. Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care. As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease. Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Death usually results from pneumonia, malnutrition, or general body wasting (inanition). Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear before age 65, while the late-onset form appears after age 65. The early-onset form is much less common than the late-onset form, accounting for less than 5 percent of all cases of Alzheimer disease.
[from GHR]

MedGen UID:
400197
Concept ID:
C1863051
Disease or Syndrome
6.

Alzheimer disease, susceptibility to, mitochondrial

MedGen UID:
325148
Concept ID:
C1838990
Finding
7.

Alzheimer disease, type 5

Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., =2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [from GeneReviews]

MedGen UID:
356103
Concept ID:
C1865868
Disease or Syndrome
8.

Coronary artery disease, severe, susceptibility to

MedGen UID:
349546
Concept ID:
C1862591
Finding
9.

Familial type 3 hyperlipoproteinemia

rather uncommon form of familial hyperlipemia characterized by the presence of lipoproteins of abnormal composition; the main abnormal lipoproteins are called beta-VLDL and have a different apoprotein content and a higher proportion of cholesterol relative to triglyceride than normal VLDL. [from CRISP]

MedGen UID:
9364
Concept ID:
C0020479
Disease or Syndrome
10.

Alzheimer disease, type 10

MedGen UID:
351228
Concept ID:
C1864828
Disease or Syndrome
11.

Broad-Betalipoproteinemia

MedGen UID:
400081
Concept ID:
C1862561
Disease or Syndrome
12.

Floating-Betalipoproteinemia

MedGen UID:
350702
Concept ID:
C1862562
Disease or Syndrome
13.

Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology

MedGen UID:
341884
Concept ID:
C1857933
Disease or Syndrome
14.

Familial Hyperbeta- and Prebetalipoproteinemia

MedGen UID:
400080
Concept ID:
C1862558
Disease or Syndrome
15.

Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d

MedGen UID:
350701
Concept ID:
C1862557
Disease or Syndrome
16.

Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis

MedGen UID:
354777
Concept ID:
C1862560
Disease or Syndrome
17.

Apolipoprotein E, Deficiency or Defect of

MedGen UID:
350700
Concept ID:
C1862556
Disease or Syndrome
18.

Alzheimer disease

A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [from HPO]

MedGen UID:
505259
Concept ID:
CN002282
Finding
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