From HPO
Limb muscle weakness- MedGen UID:
- 107956
- •Concept ID:
- C0587246
- •
- Finding
Reduced strength and weakness of the muscles of the arms and legs.
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Tinnitus- MedGen UID:
- 52760
- •Concept ID:
- C0040264
- •
- Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Mild neurosensory hearing impairment- MedGen UID:
- 867180
- •Concept ID:
- C4021538
- •
- Disease or Syndrome
The presence of a mild form of sensorineural hearing impairment.
Anosmia- MedGen UID:
- 1950
- •Concept ID:
- C0003126
- •
- Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Positive Romberg sign- MedGen UID:
- 66017
- •Concept ID:
- C0240914
- •
- Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Steppage gait- MedGen UID:
- 98105
- •Concept ID:
- C0427149
- •
- Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
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.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Distal sensory impairment of all modalities- MedGen UID:
- 322937
- •Concept ID:
- C1836527
- •
- Finding
Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Decreased motor nerve conduction velocity- MedGen UID:
- 388130
- •Concept ID:
- C1858729
- •
- Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Axonal degeneration/regeneration- MedGen UID:
- 368889
- •Concept ID:
- C1968790
- •
- Finding
A pattern of simultaneous degeneration and regeneration of axons (see comment).
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Vocal cord paresis- MedGen UID:
- 155888
- •Concept ID:
- C0751576
- •
- Disease or Syndrome
Decreased strength of the vocal folds.
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.
Central scotoma- MedGen UID:
- 57750
- •Concept ID:
- C0152191
- •
- Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Color vision defect- MedGen UID:
- 115964
- •Concept ID:
- C0234629
- •
- Finding
An anomaly in the ability to discriminate between or recognize colors.
Optic disc pallor- MedGen UID:
- 108218
- •Concept ID:
- C0554970
- •
- Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Dysmetric saccades- MedGen UID:
- 322908
- •Concept ID:
- C1836392
- •
- Finding
The controller signal for saccadic eye movements has two components
Slow decrease in visual acuity- MedGen UID:
- 343976
- •Concept ID:
- C1853141
- •
- Finding
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the voice
- Ear malformation