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Items: 1 to 20 of 23

1.

Primary lateral sclerosis

MedGen UID:
57591
Concept ID:
C0154682
Disease or Syndrome
2.

Sclerosis

hardening of the tissue [from CHV]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
3.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles. [from GeneReviews]

MedGen UID:
274
Concept ID:
C0002736
Disease or Syndrome
4.

Amyotrophic lateral sclerosis

MedGen UID:
506059
Concept ID:
CN006437
Finding
5.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
6.

Lateral

Situated at or extending to the side. [from NCI_CDISC]

MedGen UID:
64373
Concept ID:
C0205093
Spatial Concept
7.

Superoxide dismutase

a name of an enzyme [from CHV]

MedGen UID:
52578
Concept ID:
C0038838
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
8.

Copper

A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. [from MeSH]

MedGen UID:
40479
Concept ID:
C0009968
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
9.

Zinc

An element with atomic symbol Zn, atomic number 30, and atomic weight 65.39. [from NCI]

MedGen UID:
22752
Concept ID:
C0043481
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
10.

Segmental odontomaxillary dysplasia

Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur. [from ORDO]

MedGen UID:
831493
Concept ID:
CN227562
Finding
11.

ph+++

MedGen UID:
623899
Concept ID:
C0450409
Finding
12.

ph++

MedGen UID:
623898
Concept ID:
C0450408
Finding
13.

ph+

MedGen UID:
623897
Concept ID:
C0450407
Finding
14.

Zinc deficiency

A genetic or acquired metabolic disorder that is associated with zinc deficiency in the tissues. [from NCI]

MedGen UID:
472966
Concept ID:
C0235950
Disease or Syndrome
15.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
16.

Septo-optic dysplasia sequence

Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination. [from GeneReviews]

MedGen UID:
90926
Concept ID:
C0338503
Congenital Abnormality
17.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
18.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
19.

Motor neuron disease

Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089) [from MeSH]

MedGen UID:
38785
Concept ID:
C0085084
Disease or Syndrome
20.

Neuromuscular Diseases

Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include. -Amyotrophic lateral sclerosis. -Multiple sclerosis. -Myasthenia gravis. -Spinal muscular atrophy. Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.  [from MedlinePlus]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
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