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Items: 14

1.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) typically presents before age 20 years with weakness of the facial muscles and the stabilizers of the scapula or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened. [from GTR]

MedGen UID:
65956
Concept ID:
C0238288
Disease or Syndrome
2.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
3.

Anti-neutrophil cytoplasmic antibody-associated vasculitis

Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. [from MeSH]

MedGen UID:
403453
Concept ID:
C2717865
Disease or Syndrome
4.

Muscular dystrophy

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. [from HPO]

MedGen UID:
351199
Concept ID:
C1864711
Finding
5.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
6.

Focal

Area of greatest concentration, attention, or activity; a central point or locus, especially of an infection. [from NCI]

MedGen UID:
61391
Concept ID:
C0205234
Spatial Concept
7.

Muscular dystrophy

A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy. [from NCI]

MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
8.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
9.

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
10.

Disuse muscle atrophy

MedGen UID:
75533
Concept ID:
C0264122
Disease or Syndrome
11.

Disorder of nervous system

A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. [from NCI]

MedGen UID:
14336
Concept ID:
C0027765
Disease or Syndrome
12.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
13.

Neuromuscular Diseases

A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA. [from MeSH]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
14.

FSHMD1A

MedGen UID:
320407
Concept ID:
C1834673
Disease or Syndrome
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