From HPO
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).
Hammertoe- MedGen UID:
- 209712
- •Concept ID:
- C1136179
- •
- Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Congestive heart failure- MedGen UID:
- 9169
- •Concept ID:
- C0018802
- •
- Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Concentric hypertrophic cardiomyopathy- MedGen UID:
- 68651
- •Concept ID:
- C0238044
- •
- Finding
Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
Abnormality of the cardiovascular system- MedGen UID:
- 116727
- •Concept ID:
- C0243050
- •
- Congenital Abnormality
Any abnormality of the cardiovascular system.
Abnormal EKG- MedGen UID:
- 105507
- •Concept ID:
- C0522055
- •
- Finding
Abnormal rhythm of the heart.
Muscular subvalvular aortic stenosis- MedGen UID:
- 854407
- •Concept ID:
- C3887554
- •
- Anatomical Abnormality
A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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.
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.
Incoordination- MedGen UID:
- 141714
- •Concept ID:
- C0520966
- •
- Finding
Impaired vibratory sensation- MedGen UID:
- 220959
- •Concept ID:
- C1295585
- •
- Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Reduced tendon reflexes- MedGen UID:
- 356648
- •Concept ID:
- C1866934
- •
- Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Abnormality of peripheral nerve conduction- MedGen UID:
- 866458
- •Concept ID:
- C4020690
- •
- Finding
An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).
Abnormal medulla oblongata morphology- MedGen UID:
- 866796
- •Concept ID:
- C4021148
- •
- Anatomical Abnormality
An abnormality of the medulla oblongata, the lower half of the brainstem.
Abnormal pyramidal tract morphology- MedGen UID:
- 892809
- •Concept ID:
- C4021761
- •
- Anatomical Abnormality
Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
Abnormality of the dorsal column of the spinal cord- MedGen UID:
- 868962
- •Concept ID:
- C4023376
- •
- Anatomical Abnormality
An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.
Abnormality of the spinocerebellar tracts- MedGen UID:
- 871173
- •Concept ID:
- C4025647
- •
- Anatomical Abnormality
An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Diabetic ketoacidosis- MedGen UID:
- 8351
- •Concept ID:
- C0011880
- •
- Disease or Syndrome
A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
Decreased pyruvate carboxylase activity- MedGen UID:
- 871167
- •Concept ID:
- C4025641
- •
- Finding
A decreased rate of pyruvate carboxylase activity.
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.
Mitochondrial malic enzyme reduced- MedGen UID:
- 383965
- •Concept ID:
- C1856697
- •
- Finding
- Abnormal cellular phenotype
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system