From HPO
Night sweats- MedGen UID:
- 10351
- •Concept ID:
- C0028081
- •
- Sign or Symptom
Occurrence of excessive sweating during sleep.
Clubbing of fingers- MedGen UID:
- 3129
- •Concept ID:
- C0009080
- •
- Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
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).
Areflexia of lower limbs- MedGen UID:
- 347285
- •Concept ID:
- C1856694
- •
- Finding
Inability to elicit tendon reflexes in the lower limbs.
Foot dorsiflexor weakness- MedGen UID:
- 356163
- •Concept ID:
- C1866141
- •
- Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Areflexia of upper limbs- MedGen UID:
- 388832
- •Concept ID:
- C2674177
- •
- Finding
Inability to elicit tendon reflexes in the upper limbs.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Fasciculations- MedGen UID:
- 5124
- •Concept ID:
- C0015644
- •
- Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
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.
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Impaired pain sensation- MedGen UID:
- 373348
- •Concept ID:
- C1837522
- •
- Finding
Reduced ability to perceive painful stimuli.
Impaired distal vibration sensation- MedGen UID:
- 381262
- •Concept ID:
- C1853767
- •
- Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Impaired tandem gait- MedGen UID:
- 476998
- •Concept ID:
- C3275367
- •
- Finding
Reduced ability to walk in a straight line while placing the feet heel to toe.
Impaired temperature sensation- MedGen UID:
- 866867
- •Concept ID:
- C4021222
- •
- Finding
A reduced ability to discriminate between different temperatures.
Polyminimyoclonus- MedGen UID:
- 1671047
- •Concept ID:
- C4732793
- •
- Finding
Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement).
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
First dorsal interossei muscle weakness- MedGen UID:
- 371289
- •Concept ID:
- C1832277
- •
- Finding
Centrally nucleated skeletal muscle fibers- MedGen UID:
- 330782
- •Concept ID:
- C1842170
- •
- Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Intrinsic hand muscle atrophy- MedGen UID:
- 351202
- •Concept ID:
- C1864716
- •
- Finding
Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.
Triceps weakness- MedGen UID:
- 810994
- •Concept ID:
- C2230441
- •
- Finding
A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.
Stridor- MedGen UID:
- 11613
- •Concept ID:
- C0038450
- •
- Sign or Symptom
Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Vocal cord paresis- MedGen UID:
- 155888
- •Concept ID:
- C0751576
- •
- Disease or Syndrome
Decreased strength of the vocal folds.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice
- Constitutional symptom