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Results: 11

1.

Ocular Myopathy with Hypogonadism

MedGen UID:
501250
Concept ID:
C3496241
Disease or Syndrome
2.

Paralysis

Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia. . Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include: -Nerve diseases such as amyotrophic lateral sclerosis. - Autoimmune diseases such as Guillain-Barre syndrome. - Bell's palsy, which affects muscles in the face. Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.  [from MedlinePlus]

MedGen UID:
105510
Concept ID:
C0522224
Finding
3.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
4.

Employed

MedGen UID:
642401
Concept ID:
C0557351
Finding
5.

Neurocutaneous melanosis

Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013). [from OMIM]

MedGen UID:
154259
Concept ID:
C0544862
Pathologic Function
6.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
7.

Mechanotransduction, Cellular

The process by which cells convert mechanical stimuli into a chemical response. It can occur in both cells specialized for sensing mechanical cues such as MECHANORECEPTORS, and in parenchymal cells whose primary function is not mechanosensory. [from MeSH]

MedGen UID:
215106
Concept ID:
C1138568
Molecular Function
8.

Absence of skull bone

MedGen UID:
730608
Concept ID:
C1411972
Finding
9.

Paralysis absent

MedGen UID:
643625
Concept ID:
C0558839
Finding
10.

Musculoskeletal test not done

MedGen UID:
600595
Concept ID:
C0420832
Finding
11.

Musculoskeletal test done

MedGen UID:
600594
Concept ID:
C0420831
Finding

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