From HPO
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Chorea- MedGen UID:
- 3420
- •Concept ID:
- C0008489
- •
- Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Olivopontocerebellar atrophy- MedGen UID:
- 10435
- •Concept ID:
- C0028968
- •
- Disease or Syndrome
Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
Babinski sign- MedGen UID:
- 19708
- •Concept ID:
- C0034935
- •
- Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Orofacial dyskinesia- MedGen UID:
- 57747
- •Concept ID:
- C0152115
- •
- Disease or Syndrome
Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Abnormality of extrapyramidal motor function- MedGen UID:
- 115941
- •Concept ID:
- C0234133
- •
- Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Dysmetria- MedGen UID:
- 68583
- •Concept ID:
- C0234162
- •
- Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Mental deterioration- MedGen UID:
- 66713
- •Concept ID:
- C0234985
- •
- Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Progressive cerebellar ataxia- MedGen UID:
- 140727
- •Concept ID:
- C0393525
- •
- Disease or Syndrome
Macular degeneration- MedGen UID:
- 7434
- •Concept ID:
- C0024437
- •
- Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy- MedGen UID:
- 18180
- •Concept ID:
- C0029124
- •
- Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Slow saccadic eye movements- MedGen UID:
- 232942
- •Concept ID:
- C1321329
- •
- Finding
An abnormally slow velocity of the saccadic eye movements.
Supranuclear ophthalmoplegia- MedGen UID:
- 235616
- •Concept ID:
- C1408507
- •
- Disease or Syndrome
A vertical gaze palsy with inability to direct the gaze of the eyes downwards.
Progressive visual loss- MedGen UID:
- 326867
- •Concept ID:
- C1839364
- •
- Finding
A reduction of previously attained ability to see.
Pigmentary retinopathy- MedGen UID:
- 1643295
- •Concept ID:
- C4551715
- •
- Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the nervous system