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Items: 1 to 20 of 54

1.

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
2.

Steinert myotonic dystrophy

MedGen UID:
879728
Concept ID:
CN202539
Disease or Syndrome
3.

Psychiatric

MedGen UID:
851585
Concept ID:
C1548428
Finding
4.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
5.

Myotonic dystrophy

MedGen UID:
431820
Concept ID:
CN068865
Disease or Syndrome
6.

School phobia

An overwhelming, irrational, and persistent fear of attending school. [from NCI]

MedGen UID:
19253
Concept ID:
C0031570
Mental or Behavioral Dysfunction
7.

Alexithymia

Affective and cognitive disturbances characterized by impaired fantasy life and an inability to verbalize or differentiate emotions. These disturbances overlap diagnostic categories and appear generally in psychosomatic patients. [from PSY]

MedGen UID:
194
Concept ID:
C0002020
Sign or Symptom
8.

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
9.

No diagnosis

MedGen UID:
673660
Concept ID:
C0686906
Finding
10.

Attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. [from HPO]

MedGen UID:
506017
Concept ID:
CN006126
Finding
11.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
334384
Concept ID:
C1843367
Finding
12.

Attention deficit hyperactivity disorder

A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V) [from MeSH]

MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
13.

Emotional

Excessively affected by emotion. [from NCI]

MedGen UID:
167260
Concept ID:
C0849912
Finding
14.

Low intelligence

MedGen UID:
140855
Concept ID:
C0423903
Finding
15.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
16.

Mood disorder

A category of psychiatric disorders which have as their most predominant feature a disturbance in mood. [from NCI]

MedGen UID:
99866
Concept ID:
C0525045
Mental or Behavioral Dysfunction
17.

Phobic disorder

An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. [from NCI]

MedGen UID:
83881
Concept ID:
C0349231
Mental or Behavioral Dysfunction
18.

Borderline

Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
59969
Concept ID:
C0205189
Qualitative Concept
19.

Anxiety

Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus. [from NCI]

MedGen UID:
1613
Concept ID:
C0003467
Finding; Finding
20.

Neurocognitive disorder

A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. [from SNOMEDCT_US]

MedGen UID:
873945
Concept ID:
C4041080
Mental or Behavioral Dysfunction
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