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Items: 1 to 20 of 65

1.

Sudden cardiac death

An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.(NICHD) [from NCI]

MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
2.

Cardiac arrhythmia

A disorder in which there is abnormal electrical activity in the heart. [from SNOMEDCT_US]

MedGen UID:
2039
Concept ID:
C0003811
Finding; Finding
3.

Steinert myotonic dystrophy

MedGen UID:
879728
Concept ID:
CN202539
Disease or Syndrome
4.

Steinert myotonic dystrophy syndrome

Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common. [from GTR]

MedGen UID:
10239
Concept ID:
C0027126
Disease or Syndrome
5.

Respiratory failure

A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. [from HPO]

MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
6.

Muscle weakness

A reduction in the strength of one or more muscles. [from NCI]

MedGen UID:
57735
Concept ID:
C0151786
Finding; Sign or Symptom
7.

Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. [from HPO]

MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality; Finding; Finding
8.

Myotonia

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. [from HPO]

MedGen UID:
10238
Concept ID:
C0027125
Finding
9.

dystrophia

MedGen UID:
894002
Concept ID:
CN239855
Disease or Syndrome
10.

Dystrophia Myotonica 1

A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts. [from NCI]

MedGen UID:
886881
Concept ID:
C3250443
Disease or Syndrome
11.

Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

MedGen UID:
859583
Concept ID:
C3899989
Disease or Syndrome
12.

Lassitude

Reduced strength of muscles. [from HPO]

MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
13.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
14.

Myotonic dystrophy

MedGen UID:
431820
Concept ID:
CN068865
Disease or Syndrome
15.

Cataract

MedGen UID:
368085
Concept ID:
C1962983
Finding
16.

Cardiac conduction abnormalities

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. [from HPO]

MedGen UID:
334259
Concept ID:
C1842820
Finding
17.

Arrhythmia

An electrocardiographic finding of a change in cardiac electrical activity. [from NCI]

MedGen UID:
167788
Concept ID:
C0855329
Finding
18.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
19.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
20.

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
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