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Items: 1 to 20 of 56

1.

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
2.

Azorean disease

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses. [from GTR]

MedGen UID:
9841
Concept ID:
C0024408
Disease or Syndrome
3.

Hereditary disease

Diseases caused by genetic mutations that are inherited from a parent's genome. [from MeSH]

MedGen UID:
5527
Concept ID:
C0019247
Disease or Syndrome
4.

Hereditary ataxia

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur. [from GTR]

MedGen UID:
2478
Concept ID:
C0004138
Disease or Syndrome
5.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
6.

Huntington chorea

Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years and the median survival time is 15 to 18 years after onset. [from GTR]

MedGen UID:
5654
Concept ID:
C0020179
Disease or Syndrome
7.

Hypermetria

MedGen UID:
896586
Concept ID:
C3668822
Finding
8.

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
9.

DNA Repeat Expansion

An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next. [from MeSH]

MedGen UID:
219768
Concept ID:
C1257790
Cell or Molecular Dysfunction
10.

Rubral tremor

Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. [from HPO]

MedGen UID:
196693
Concept ID:
C0750940
Disease or Syndrome
11.

Limb ataxia

A kind of ataxia that affects movements of the extremities. [from HPO]

MedGen UID:
196692
Concept ID:
C0750937
Finding; Finding
12.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
13.

Paroxysmal dyskinesia

Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. [from HPO]

MedGen UID:
156242
Concept ID:
C0752210
Disease or Syndrome
14.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
15.

Ballism

MedGen UID:
148467
Concept ID:
C0752196
Disease or Syndrome
16.

Incoordination

MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
17.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
18.

Asterixis

A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. [from HPO]

MedGen UID:
115916
Concept ID:
C0232766
Sign or Symptom
19.

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
20.

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. [from MeSH]

MedGen UID:
99831
Concept ID:
C0524894
Cell or Molecular Dysfunction
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