From HPO
Abnormality of the hand- MedGen UID:
- 6715
- •Concept ID:
- C0018564
- •
- Anatomical Abnormality
An abnormality affecting one or both hands.
Talipes cavus equinovarus- MedGen UID:
- 330444
- •Concept ID:
- C1832342
- •
- Anatomical Abnormality
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Abnormal auditory evoked potentials- MedGen UID:
- 141758
- •Concept ID:
- C0522216
- •
- Finding
An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Axonal loss- MedGen UID:
- 316962
- •Concept ID:
- C1832338
- •
- Finding
A reduction in the number of axons in the peripheral nervous system.
Segmental peripheral demyelination/remyelination- MedGen UID:
- 335873
- •Concept ID:
- C1843077
- •
- Finding
A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Onion bulb formation- MedGen UID:
- 376237
- •Concept ID:
- C1847906
- •
- Finding
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
Decreased nerve conduction velocity- MedGen UID:
- 347509
- •Concept ID:
- C1857640
- •
- Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
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.
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material- MedGen UID:
- 892684
- •Concept ID:
- C4024964
- •
- Finding
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.
- Abnormal cellular phenotype
- Abnormality of limbs
- Abnormality of the ear
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system