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Results: 1 to 20 of 38

1.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
2.

Parkinsonism

Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. [from HPO]

MedGen UID:
504793
Concept ID:
CN001191
Finding
3.

Sense of smell impaired

MedGen UID:
66693
Concept ID:
C0234260
Finding
4.

Parkinsonism

A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. [from MeSH]

MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
5.

Autosomal Dominant Parkinsonism

MedGen UID:
148451
Concept ID:
C0752098
Disease or Syndrome
6.

Parkinson's disease

Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [from GeneReviews]

MedGen UID:
10590
Concept ID:
C0030567
Disease or Syndrome
7.

Lewy bodies

MedGen UID:
506465
Concept ID:
CN117211
Finding
8.

Parkinson disease 8, autosomal dominant

LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability, and gait abnormalities including festination and freezing. Non-motor symptoms in LRRK2-related PD occur with the same frequency as observed in typical idiopathic PD. Onset is generally after age 50 years. [from GeneReviews]

MedGen UID:
339628
Concept ID:
C1846862
Disease or Syndrome
9.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
10.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
11.

Asymptomatic

The finding of no indications of a particular disease or injury. [from NCI]

MedGen UID:
65413
Concept ID:
C0231221
Finding
12.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
13.

Sense of smell altered

Diminished ability to smell [from CCC]

MedGen UID:
307133
Concept ID:
C1510410
Sign or Symptom
14.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
15.

Juvenile Parkinson's disease

MedGen UID:
155699
Concept ID:
C0752105
Disease or Syndrome
16.

Disorder of smell

Loss of or impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions. [from MeSH]

MedGen UID:
154304
Concept ID:
C0553757
Disease or Syndrome
17.

Neurodegenerative Disorders

A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. [from NCI]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
18.

Dysosmia

MedGen UID:
65905
Concept ID:
C0235287
Sign or Symptom
19.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
20.

Sensation Disorders

Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM). [from MeSH]

MedGen UID:
19934
Concept ID:
C0036659
Disease or Syndrome

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