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Items: 1 to 20 of 48

1.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
2.

Malignant Breast Neoplasm

Breast cancer affects one in eight women during their lives. Breast cancer kills more women in the United States than any cancer except lung cancer. No one knows why some women get breast cancer, but there are a number of risk factors. Risks that you cannot change include. -Age - the chance of getting breast cancer rises as a woman gets older . -Genes - there are two genes, BRCA1 and BRCA2, that greatly increase the risk. Women who have family members with breast or ovarian cancer may wish to be tested. . -Personal factors - beginning periods before age 12 or going through menopause after age 55. Other risks include being overweight, using hormone replacement therapy (also called menopausal hormone therapy), taking birth control pills, drinking alcohol, not having children or having your first child after age 35 or having dense breasts. Symptoms of breast cancer may include a lump in the breast, a change in size or shape of the breast or discharge from a nipple. Breast self-exam and mammography can help find breast cancer early when it is most treatable. Treatment may consist of radiation, lumpectomy, mastectomy, chemotherapy and hormone therapy. Men can have breast cancer, too, but the number of cases is small. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
651
Concept ID:
C0006142
Neoplastic Process
3.

Ataxia-telangiectasia syndrome

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. [from OMIM]

MedGen UID:
439
Concept ID:
C0004135
Congenital Abnormality; Disease or Syndrome
4.

breast cancer

MedGen UID:
880206
Concept ID:
CN235590
Finding
5.

Neoplasm of the breast

A tumor (abnormal growth of tissue) of the breast. [from HPO]

MedGen UID:
506444
Concept ID:
CN116912
Finding
6.

Neoplasm of breast

Tumors or cancer of the human BREAST. [from MeSH]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
7.

Breast carcinoma

The presence of a carcinoma of the breast. [from HPO]

MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
8.

Telangiectasia

a visibly dilated blood vessel on the skin [from CHV]

MedGen UID:
21088
Concept ID:
C0039446
Disease or Syndrome
9.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
10.

Familial cancer of breast

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The exact cancer risks differ slightly depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant. [from GeneReviews]

MedGen UID:
87542
Concept ID:
C0346153
Neoplastic Process
11.

Hypermetria

MedGen UID:
896586
Concept ID:
C3668822
Finding
12.

DNA Repair-Deficiency Disorders

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

MedGen UID:
327583
Concept ID:
C1563696
Disease or Syndrome
13.

Rubral tremor

Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. [from HPO]

MedGen UID:
196693
Concept ID:
C0750940
Disease or Syndrome; Sign or Symptom
14.

Limb ataxia

A kind of ataxia that affects movements of the extremities. [from HPO]

MedGen UID:
196692
Concept ID:
C0750937
Finding; Finding
15.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
16.

Ballism

MedGen UID:
148467
Concept ID:
C0752196
Disease or Syndrome
17.

Incoordination

MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
18.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
19.

Asterixis

A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. [from HPO]

MedGen UID:
115916
Concept ID:
C0232766
Sign or Symptom
20.

Truncal ataxia

Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. [from HPO]

MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
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