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Items: 9

1.

Neoplasm of the thymus

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

MedGen UID:
811424
Concept ID:
C3714644
Neoplastic Process
2.

Dentatorubral-pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. Onset ranges from before age one year to age 72 years; mean age of onset is 31.5 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy. [from GeneReviews]

MedGen UID:
155630
Concept ID:
C0751781
Disease or Syndrome
3.

Intervertebral disk degeneration

The presence of degenerative changes of intervertebral disk. [from HPO]

MedGen UID:
102357
Concept ID:
C0158266
Disease or Syndrome
4.

Collapse (finding)

Failure of a physiologic function or system. [from NCI]

MedGen UID:
91024
Concept ID:
C0344329
Finding
5.

Benign neoplasm of thymus

A non-metastasizing neoplasm that arises from the thymus. [from NCI]

MedGen UID:
87526
Concept ID:
C0345975
Neoplastic Process
6.

Intervertebral disc disorder

Lumbar disc disease is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants (Matsui et al., 1998; Battie et al., 1995; Sambrook et al., 1999). [from OMIM]

MedGen UID:
57852
Concept ID:
C0158252
Disease or Syndrome
7.

Lymphoma

A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. [from HPO]

MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
8.

Diabetes mellitus type 1

Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [from OMIM]

MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
9.

Autoimmunity

The occurrence of an immune reaction against the organism's own cells or tissues. [from HPO]

MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
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