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Results: 8

1.

Atrophy of the spinal cord

MedGen UID:
505988
Concept ID:
CN005945
Finding
2.

Skeletal muscle hypertrophy

Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells). [from HPO]

MedGen UID:
505580
Concept ID:
CN003354
Finding
3.

Skeletal muscle atrophy

The presence of skeletal muscular atrophy (which is also known as amyotrophy). [from HPO]

MedGen UID:
505481
Concept ID:
CN002890
Finding
4.

Spinal muscular atrophy, scapuloperoneal

MedGen UID:
442323
Concept ID:
CN074295
Disease or Syndrome
5.

Muscle hypertrophy

The muscle system process that results in enlargement or overgrowth of all or part of a muscle organ due to an increase in the size of its muscle cells. Physiological hypertrophy is a normal process during development (it stops in cardiac muscle after adolescence) and can also be brought on in response to demand. In athletes cardiac and skeletal muscles undergo hypertrophy stimulated by increasing muscle activity on exercise. Smooth muscle cells in the uterus undergo hypertrophy during pregnancy. [GOC:mtg_muscle] [from GO]

MedGen UID:
116016
Concept ID:
C0236033
6.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
7.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
8.

Retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome

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