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Items: 17

1.

Myasthenia gravis

Myasthenia gravis (MG) is an autoimmune disease in which antibodies bind to acetylcholine receptors or to functionally related molecules in the postsynaptic membrane at the neuromuscular junction. The antibodies induce weakness of skeletal muscles, which is the sole disease manifestation. The weakness can be generalized or localized, is more proximal than distal, and nearly always includes eye muscles, with diplopia and ptosis. The pattern of involvement is usually symmetric, apart from the eye involvement, which is often markedly asymmetric and involves several eye muscles. The weakness typically increases with exercise and repetitive muscle use (fatigue) and varies over the course of a day and from day to day, often with nearly normal muscle strength in the morning (summary by Gilhus, 2016). [from OMIM]

MedGen UID:
7764
Concept ID:
C0026896
Disease or Syndrome
2.

Fatigable weakness

A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [from HPO]

MedGen UID:
451076
Concept ID:
C0947912
Disease or Syndrome
3.

Autoimmune disease

A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). [from NCI]

MedGen UID:
2135
Concept ID:
C0004364
Disease or Syndrome
4.

Tumor grade 1, general grading system

A morphologic qualifier indicating that a cancerous lesion is well differentiated. [from NCI]

MedGen UID:
634565
Concept ID:
C0475269
Finding
5.

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
6.

Thyroid tumor

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

MedGen UID:
21546
Concept ID:
C0040136
Neoplastic Process
7.

Autoimmune thyroid disease

An inflammatory disorder that affects the thyroid gland. It is characterized by the infiltration of the thyroid parenchyma by lymphocytes. It includes Hashimoto thyroiditis and subacute lymphocytic thyroiditis. [from NCI]

MedGen UID:
183088
Concept ID:
C0920350
Disease or Syndrome
8.

Abnormality of the thyroid gland

An abnormality of the thyroid gland. [from HPO]

MedGen UID:
1378579
Concept ID:
C4317107
Finding
9.

Neuromuscular junction disease

Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. [from MONDO]

MedGen UID:
155665
Concept ID:
C0751950
Disease or Syndrome
10.

Neuromuscular disease

A group of disorders that affect the neuromuscular system. They may be acquired or inherited and tend to be progressive, resulting in debilitating muscle weakness. [from NCI]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
11.

Neoplasm of the nervous system

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

MedGen UID:
45046
Concept ID:
C0027766
Neoplastic Process
12.

Paraneoplastic syndrome

A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. [from NCI]

MedGen UID:
45320
Concept ID:
C0030472
Neoplastic Process
13.

Paraneoplastic neurologic syndrome

Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. [from ORDO]

MedGen UID:
155656
Concept ID:
C0751911
Disease or Syndrome
14.

Autoimmune disorder of the nervous system

A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. [from NCI]

MedGen UID:
155946
Concept ID:
C0751871
Disease or Syndrome
15.

Autoimmune thyroid disease, susceptibility to, 1

MedGen UID:
334160
Concept ID:
C1842446
Disease or Syndrome
16.

Autoimmune thyroid disease, susceptibility to, 2

The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves disease (GD; 275000) and Hashimoto thyroiditis (HT; 140300). See 608173. [from OMIM]

MedGen UID:
334159
Concept ID:
C1842445
Disease or Syndrome
17.

Autoimmune thyroid disease, susceptibility to, 5

MedGen UID:
411625
Concept ID:
C2748621
Finding
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