| D009223 |
Myotonic Dystrophy |
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. |
Dystrophia Myotonica,Myotonic Dystrophy, Congenital,Myotonic Myopathy, Proximal,Steinert Disease,Congenital Myotonic Dystrophy,Dystrophia Myotonica 1,Dystrophia Myotonica 2,Myotonia Atrophica,Myotonia Dystrophica,Myotonic Dystrophy 1,Myotonic Dystrophy 2,PROMM (Proximal Myotonic Myopathy),Proximal Myotonic Myopathy,Ricker Syndrome,Steinert Myotonic Dystrophy,Steinert's Disease,Atrophica, Myotonia,Atrophicas, Myotonia,Congenital Myotonic Dystrophies,Disease, Steinert,Disease, Steinert's,Dystrophia Myotonica 2s,Dystrophia Myotonicas,Dystrophica, Myotonia,Dystrophicas, Myotonia,Dystrophies, Congenital Myotonic,Dystrophies, Myotonic,Dystrophy, Congenital Myotonic,Dystrophy, Myotonic,Dystrophy, Steinert Myotonic,Myopathies, Proximal Myotonic,Myopathy, Proximal Myotonic,Myotonia Atrophicas,Myotonia Dystrophicas,Myotonic Dystrophies,Myotonic Dystrophies, Congenital,Myotonic Dystrophy, Steinert,Myotonic Myopathies, Proximal,Myotonica, Dystrophia,Myotonicas, Dystrophia,PROMMs (Proximal Myotonic Myopathy),Proximal Myotonic Myopathies,Steinerts Disease,Syndrome, Ricker |
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| D012120 |
Respiration Disorders |
Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available. |
Disorder, Respiration,Disorders, Respiration,Respiration Disorder |
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| D012132 |
Respiratory Muscles |
These include the muscles of the DIAPHRAGM and the INTERCOSTAL MUSCLES. |
Ventilatory Muscles,Respiratory Muscle,Muscle, Respiratory,Muscle, Ventilatory,Muscles, Respiratory,Muscles, Ventilatory,Ventilatory Muscle |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D006935 |
Hypercapnia |
A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood. |
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| D012893 |
Sleep Wake Disorders |
Abnormal sleep-wake schedule or pattern associated with the CIRCADIAN RHYTHM which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. |
Sleep Disorders,Long Sleeper Syndrome,Short Sleep Phenotype,Short Sleeper Syndrome,Sleep-Related Neurogenic Tachypnea,Subwakefullness Syndrome,Disorder, Sleep,Disorder, Sleep Wake,Disorders, Sleep,Disorders, Sleep Wake,Long Sleeper Syndromes,Neurogenic Tachypnea, Sleep-Related,Neurogenic Tachypneas, Sleep-Related,Phenotype, Short Sleep,Phenotypes, Short Sleep,Short Sleep Phenotypes,Short Sleeper Syndromes,Sleep Disorder,Sleep Phenotypes, Short,Sleep Related Neurogenic Tachypnea,Sleep Wake Disorder,Sleep-Related Neurogenic Tachypneas,Sleeper Syndrome, Long,Sleeper Syndrome, Short,Sleeper Syndromes, Long,Sleeper Syndromes, Short,Subwakefullness Syndromes,Syndrome, Long Sleeper,Syndrome, Short Sleeper,Syndrome, Subwakefullness,Syndromes, Long Sleeper,Syndromes, Short Sleeper,Syndromes, Subwakefullness,Tachypnea, Sleep-Related Neurogenic,Tachypneas, Sleep-Related Neurogenic,Wake Disorder, Sleep,Wake Disorders, Sleep |
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| D019680 |
Trinucleotide Repeat Expansion |
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. |
Expanded Trinucleotide Repeat,Expanded Trinucleotide Repeats,Expansion, Trinucleotide Repeat,Expansions, Trinucleotide Repeat,Repeat Expansion, Trinucleotide,Repeat Expansions, Trinucleotide,Repeat, Expanded Trinucleotide,Repeats, Expanded Trinucleotide,Trinucleotide Repeat Expansions,Trinucleotide Repeat, Expanded,Trinucleotide Repeats, Expanded |
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