From HPO
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Athetosis- MedGen UID:
- 2115
- •Concept ID:
- C0004158
- •
- Disease or Syndrome
A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
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).
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.
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.
Status epilepticus- MedGen UID:
- 11586
- •Concept ID:
- C0038220
- •
- Disease or Syndrome
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Epilepsia partialis continua- MedGen UID:
- 39303
- •Concept ID:
- C0085543
- •
- Disease or Syndrome
Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).
Encephalopathy- MedGen UID:
- 39314
- •Concept ID:
- C0085584
- •
- Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
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.
Clumsiness- MedGen UID:
- 66690
- •Concept ID:
- C0233844
- •
- Sign or Symptom
Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Involuntary movements- MedGen UID:
- 140884
- •Concept ID:
- C0427086
- •
- Sign or Symptom
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Epileptic encephalopathy- MedGen UID:
- 452596
- •Concept ID:
- C0543888
- •
- Disease or Syndrome
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Reduced eye contact- MedGen UID:
- 303190
- •Concept ID:
- C1445953
- •
- Finding
A reduced frequency or duration of eye contact.
Loss of ambulation- MedGen UID:
- 332305
- •Concept ID:
- C1836843
- •
- Finding
Inability to walk in a person who previous had the ability to walk.
Sensory axonal neuropathy- MedGen UID:
- 334116
- •Concept ID:
- C1842587
- •
- Finding
An axonal neuropathy of peripheral sensory nerves.
Decreased number of large peripheral myelinated nerve fibers- MedGen UID:
- 395303
- •Concept ID:
- C1859606
- •
- Finding
A reduced number of large myelinated nerve fibers.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Cerebellar cortical atrophy- MedGen UID:
- 870270
- •Concept ID:
- C4024710
- •
- Disease or Syndrome
Atrophy (wasting) of the cerebellar cortex.
Atrophy/Degeneration affecting the brainstem- MedGen UID:
- 870454
- •Concept ID:
- C4024900
- •
- Disease or Syndrome
Specific learning disability- MedGen UID:
- 871302
- •Concept ID:
- C4025790
- •
- Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Cerebral cortical atrophy- MedGen UID:
- 1646740
- •Concept ID:
- C4551583
- •
- Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Excessive daytime somnolence- MedGen UID:
- 1635612
- •Concept ID:
- C4551761
- •
- Sign or Symptom
A state of abnormally strong desire for sleep during the daytime.
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.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Fiber type grouping- MedGen UID:
- 478824
- •Concept ID:
- C3277194
- •
- Finding
An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hypergonadotropic hypogonadism- MedGen UID:
- 184926
- •Concept ID:
- C0948896
- •
- Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
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.
Ophthalmoplegia- MedGen UID:
- 45205
- •Concept ID:
- C0029089
- •
- Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
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.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation