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1.

Overlap syndrome

An autoimmune, connective tissue disorder in which the patient exhibits features from two or more diseases. These typically include systemic sclerosis, dermatomyositis, polymyositis, rheumatoid arthritis, systemic lupus erythematosus, and Sjogren syndrome; in pediatrics the respective pediatric entities are encountered. [from NCI]

MedGen UID:
592755
Concept ID:
C0410000
Disease or Syndrome
2.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
3.

MERRF/MELAS overlap syndrome

MedGen UID:
463320
Concept ID:
C3151970
Disease or Syndrome
4.

Encephalopathy, mitochondrial

MedGen UID:
342221
Concept ID:
C1852373
Disease or Syndrome
5.

Myoclonus with epilepsy with ragged red fibers

A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. [from NCI]

MedGen UID:
56486
Concept ID:
C0162672
Disease or Syndrome
6.

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000). [from GTR]

MedGen UID:
56485
Concept ID:
C0162671
Disease or Syndrome
7.

Stroke

A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810) [from MeSH]

MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
8.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
9.

Myoclonus

A rapid, involuntary jerk of a muscle or group of muscles. [from NCI]

MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
10.

Seizure Disorders

A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. [from NCI]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
11.

Deafness

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
12.

Lactic acidosis

Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE. [from MeSH]

MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
13.

Acidosis

A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up. [from MeSH]

MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
14.

mitochondrial encephalomyopathy

MedGen UID:
851587
Concept ID:
CN232691
Finding
15.

Ragged-red muscle fibers

An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. [from HPO]

MedGen UID:
477048
Concept ID:
C3275417
Finding
16.

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)

SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following features in infancy or childhood (median age of onset 2 months; range of onset birth to 6 years): psychomotor retardation, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, postnatal growth retardation, and feeding difficulties. Other less frequent features include distinctive facial features, contractures, kyphoscoliosis, gastroesophageal reflux, ptosis, choreoathetosis, ophthalmoplegia, and epilepsy (infantile spasms or generalized convulsions). The median survival is 20 years; approximately 30% of affected individuals succumb during childhood. Affected individuals may have hyperintensities in the basal ganglia, cerebral atrophy, and leukoencephalopathy on head MRI. Elevation of methylmalonic acid (MMA) in the urine and plasma is found in a vast majority of affected individuals, although at levels that are far below those typically seen in individuals with classic methylmalonic aciduria. [from GTR]

MedGen UID:
413170
Concept ID:
C2749864
Disease or Syndrome
17.

Maternal

A designation that has some relationship to motherhood. [from NCI]

MedGen UID:
348949
Concept ID:
C1858460
Finding
18.

Stroke-like episodes

MedGen UID:
346558
Concept ID:
C1857287
Finding
19.

Stroke

MedGen UID:
340407
Concept ID:
C1849743
20.

Severity

The intensity or degree of a manifestation. [from HPO]

MedGen UID:
101096
Concept ID:
C0522510
Qualitative Concept
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