From HPO
Urinary incontinence- MedGen UID:
- 22579
- •Concept ID:
- C0042024
- •
- Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Stroke disorder- MedGen UID:
- 52522
- •Concept ID:
- C0038454
- •
- Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Varicose disease- MedGen UID:
- 21827
- •Concept ID:
- C0042345
- •
- Disease or Syndrome
Enlarged and tortuous veins.
Vascular granular osmiophilic material deposition- MedGen UID:
- 348472
- •Concept ID:
- C1859833
- •
- Finding
Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.
Atypical behavior- MedGen UID:
- 14048
- •Concept ID:
- C0004941
- •
- Sign or Symptom
Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Hemiparesis- MedGen UID:
- 6783
- •Concept ID:
- C0018989
- •
- Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Peripheral neuropathy- MedGen UID:
- 18386
- •Concept ID:
- C0031117
- •
- Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Pseudobulbar paralysis- MedGen UID:
- 10989
- •Concept ID:
- C0033790
- •
- Disease or Syndrome
Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
Psychotic disorder- MedGen UID:
- 19568
- •Concept ID:
- C0033975
- •
- Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Migraine- MedGen UID:
- 57451
- •Concept ID:
- C0149931
- •
- Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Perseverative thought- MedGen UID:
- 66686
- •Concept ID:
- C0233651
- •
- Mental or Behavioral Dysfunction
The repetitive production of the same response to different commands.
Memory impairment- MedGen UID:
- 68579
- •Concept ID:
- C0233794
- •
- Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Personality changes- MedGen UID:
- 66817
- •Concept ID:
- C0240735
- •
- Mental or Behavioral Dysfunction
An abnormal shift in patterns of thinking, acting, or feeling.
Leukoencephalopathy- MedGen UID:
- 78722
- •Concept ID:
- C0270612
- •
- Disease or Syndrome
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Dementia- MedGen UID:
- 99229
- •Concept ID:
- C0497327
- •
- Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Abnormality of visual evoked potentials- MedGen UID:
- 105509
- •Concept ID:
- C0522214
- •
- Finding
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Abulia- MedGen UID:
- 776735
- •Concept ID:
- C0919974
- •
- Mental or Behavioral Dysfunction
Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions.
Lacunar stroke- MedGen UID:
- 465269
- •Concept ID:
- C3178801
- •
- Disease or Syndrome
A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.
Recurrent subcortical infarcts- MedGen UID:
- 870472
- •Concept ID:
- C4024918
- •
- Disease or Syndrome
Subcortical dementia- MedGen UID:
- 870488
- •Concept ID:
- C4024935
- •
- Disease or Syndrome
A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.
Abnormal electroretinogram- MedGen UID:
- 96908
- •Concept ID:
- C0476397
- •
- Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Nonarteritic anterior ischemic optic neuropathy- MedGen UID:
- 338887
- •Concept ID:
- C1852242
- •
- Disease or Syndrome
An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.
Visual loss- MedGen UID:
- 784038
- •Concept ID:
- C3665386
- •
- Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the nervous system
- Constitutional symptom