{"context":{"query":">>hgnc>>hpo","source_dataset":"hgnc","target_dataset":"hpo"},"stats":{"queried":1,"total":72,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|definition","mappings":[{"input":"HGNC:11179","source":"HGNC:11179|superoxide dismutase 1","targets":["HP:0000006|Autosomal dominant inheritance|A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.","HP:0000007|Autosomal recessive inheritance|A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).","HP:0000217|Xerostomia|Dryness of the mouth due to salivary gland dysfunction.","HP:0000358|Posteriorly rotated ears|A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HP:0000369|Low-set ears|Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HP:0000708|Atypical behavior|Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HP:0000712|Emotional lability|Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HP:0000716|Depression|Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HP:0000739|Anxiety|Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HP:0001251|Ataxia|Ataxia refers to impaired coordination of voluntary muscle movement. 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).","HP:0001257|Spasticity|A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HP:0001260|Dysarthria|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.","HP:0001272|Cerebellar atrophy|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.","HP:0001276|Hypertonia|A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HP:0001285|Spastic tetraparesis|Spastic weakness affecting all four limbs.","HP:0001308|Tongue fasciculations|Fasciculations or fibrillation affecting the tongue muscle.","HP:0001324|Muscle weakness|Reduced strength of muscles.","HP:0001344|Absent speech|Complete lack of development of speech and language abilities.","HP:0001347|Hyperreflexia|Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HP:0001561|Polyhydramnios|The presence of excess amniotic fluid in the uterus during pregnancy.","HP:0001618|Dysphonia|Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","HP:0001824|Weight loss|Reduction of total body weight.","HP:0001845|Overlapping toe|Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.","HP:0002015|Dysphagia|Difficulty in swallowing.","HP:0002061|Lower limb spasticity|Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.","HP:0002094|Dyspnea|Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HP:0002145|Frontotemporal dementia|A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.","HP:0002151|Increased circulating lactate concentration|Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HP:0002180|Neurodegeneration|Progressive loss of neural cells and tissue.","HP:0002267|Exaggerated startle response|An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.","HP:0002307|Drooling|Habitual flow of saliva out of the mouth.","HP:0002313|Spastic paraparesis|Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HP:0002314|Degeneration of the lateral corticospinal tracts|Deterioration of the tissues of the lateral corticospinal tracts.","HP:0002360|Sleep disturbance|An abnormal pattern in the quality, quantity, or characteristics of sleep.","HP:0002380|Fasciculations|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.","HP:0002398|Degeneration of anterior horn cells|","HP:0002411|Myokymia|Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.","HP:0002463|Language impairment|Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HP:0002878|Respiratory failure|A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HP:0003202|Skeletal muscle atrophy|The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HP:0003324|Generalized muscle weakness|Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HP:0003376|Steppage gait|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.","HP:0003394|Muscle spasm|Sudden and involuntary contractions of one or more muscles.","HP:0003470|Paralysis|Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.","HP:0003484|Upper limb muscle weakness|Weakness of the muscles of the arms.","HP:0003487|Babinski sign|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.","HP:0003581|Adult onset|Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.","HP:0003593|Infantile onset|Onset of signs or symptoms of disease between 28 days to one year of life.","HP:0003693|Distal amyotrophy|Muscular atrophy affecting muscles in the distal portions of the extremities.","HP:0004326|Cachexia|Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HP:0007024|Pseudobulbar paralysis|Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.","HP:0007256|Abnormal pyramidal sign|Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HP:0007340|Lower limb muscle weakness|Weakness of the muscles of the legs.","HP:0007354|Amyotrophic lateral sclerosis|","HP:0007373|Motor neuron atrophy|Wasting involving the motor neuron.","HP:0008936|Axial hypotonia|Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HP:0008955|Progressive distal muscular atrophy|Progressive muscular atrophy affecting muscles in the distal portions of the extremities.","HP:0009027|Foot dorsiflexor weakness|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.","HP:0010535|Sleep apnea|An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.","HP:0011448|Ankle clonus|Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.","HP:0012378|Fatigue|A subjective feeling of tiredness characterized by a lack of energy and motivation.","HP:0012473|Tongue atrophy|Wasting of the tongue.","HP:0012531|Pain|An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HP:0012764|Orthopnea|A sensation of breathlessness in the recumbent position, relieved by sitting or standing.","HP:0025425|Laryngospasm|A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.","HP:0030192|Fatigable weakness of bulbar muscles|A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HP:0030195|Fatigable weakness of swallowing muscles|A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HP:0030196|Fatigable weakness of respiratory muscles|A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HP:0030878|Abnormality on pulmonary function testing|Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.","HP:0031993|Hoffmann sign|A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.","HP:0033683|Jaw hyperreflexia|Increased intensity of muscle tendon reflexes in jaw.","HP:0100543|Cognitive impairment|Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering."]}]}