| 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." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000474 | Excess nuchal skin | |
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| HP:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
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| HP:0000657 | Oculomotor apraxia | |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000710 | Hyperorality | |
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| HP:0000711 | Restlessness | |
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| HP:0000713 | Agitation | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000719 | Inappropriate behavior | |
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| HP:0000723 | Restrictive behaviour, interests, and activities | |
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| HP:0000726 | Dementia | |
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| HP:0000727 | Frontal lobe dementia | |
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| HP:0000733 | Stereotyped, repetitive behaviour | |
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| HP:0000734 | Disinhibition | |
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| HP:0000737 | Irritability | |
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| HP:0000738 | Hallucinations | |
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| HP:0000739 | Anxiety | |
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| HP:0000741 | Apathy | |
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| HP:0000748 | Inappropriate laughter | |
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| HP:0000751 | Personality changes | |
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| HP:0000757 | Lack of insight | |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| 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." [HPO:curators] |
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| HP:0001276 | Hypertonia | |
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| HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001285 | Spastic tetraparesis | "Spastic weakness affecting all four limbs." [HPO:curators] |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
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| HP:0001300 | Parkinsonism | |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001635 | Congestive heart failure | "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." [HPO:curators] |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002069 | Generalized tonic-clonic seizures | "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators] |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002145 | Frontotemporal dementia | |
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| HP:0002171 | Gliosis | |
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| HP:0002185 | Neurofibrillary tangles | |
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| HP:0002186 | Apraxia | "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators] |
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| HP:0002300 | Mutism | |
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| HP:0002354 | Memory impairment | |
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| HP:0002357 | Dysphasia | |
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| HP:0002366 | Lower motor neuron signs | |
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| HP:0002371 | Loss of speech | |
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| 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." [HPO:curators] |
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| HP:0002381 | Aphasia | |
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| HP:0002395 | Lower limb hyperreflexia | |
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| HP:0002427 | Motor aphasia | |
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| HP:0002442 | Dyscalculia | |
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| HP:0002446 | Astrocytosis | |
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| HP:0002463 | Language impairment | |
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| HP:0002465 | Poor speech | |
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| HP:0002476 | Primitive reflexes (palmomental, snout, glabellar) | |
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| HP:0002493 | Corticospinal tract dysfunction | |
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| HP:0002500 | Abnormality of the cerebral white matter | |
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| HP:0002511 | Alzheimer disease | |
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| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
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| HP:0002591 | Polyphagia | |
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| HP:0003198 | Myopathy | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| 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." [HPO:curators] |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003678 | Rapidly progressive | |
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| HP:0003745 | Sporadic | |
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| HP:0003791 | Deposits immunoreactive to beta-amyloid protein | |
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| HP:0006892 | Cerebral atrophy, frontotemporal, progressive | |
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| HP:0006977 | Grammar-specific speech disorder | |
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| HP:0007112 | Mri shows frontal and temporal cortical atrophy | |
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| HP:0007354 | Amyotrophic lateral sclerosis | |
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| HP:0008768 | Inappropriate sexual behavior | |
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| HP:0010522 | Dyslexia | "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [HPO:curators] |
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| HP:0010523 | Alexia | "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [HPO:curators] |
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| HP:0010524 | Agnosia | "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:curators] |
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| HP:0010525 | Finger agnosia | "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators] |
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| HP:0010526 | Dysgraphia | "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators] |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0011132 | Chronic furunculosis | "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection." [HPO:probinson] |
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| HP:0011204 | EEG with continuous slow activity | "EEG showing diffuse slowing without interruption." [HPO:jalbers] |
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| HP:0012322 | Perifolliculitis | "Inflammation surrounding hair follicles." [HPO:probinson] |
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| HP:0012433 | Abnormal social behavior | "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson] |
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| HP:0012444 | Brain atrophy | "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] |
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| HP:0012658 | Abnormal brain FDG positron emission tomography | "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity." [HPO:probinson] |
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| HP:0012671 | Abulia | "Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency." [HPO:probinson, pmid:16030444, UToronto:HTrang] |
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| HP:0030212 | Collectionism | "Excessive or pathological tendency to save and collect possessions." [] |
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| HP:0030213 | Emotional blunting | "Lack of emotional reactivity and empathy for situations or persons, sometime also for family members." [ICM:PCaroppo] |
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| HP:0030219 | Semantic dementia | "A progressive loss of the ability to remember the meaning of words, faces and objects." [ICM:PCaroppo, pmid:24966676] |
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| HP:0030222 | Visual agnosia | "Difficulty in recognizing objects by visual input in absence of sensorial visual impairment." [ICM:PCaroppo] |
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| HP:0030223 | Perseveration | "Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact." [HPO:probinson, pmid:9050113] |
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| HP:0030391 | Spoken Word Recognition Deficit | "Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus." [HPO:probinson] |
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| HP:0030784 | Anomia | "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name." [] {comment="HPO:probinson"} |
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| HP:0040154 | Acne inversa | |
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| HP:0100256 | Senile plaques | "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken] |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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| HP:0100838 | Recurrent cutaneous abscess formation | "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses." [HPO:probinson] |
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| HP:0500014 | Abnormal test result | "Abnormal finding in a diagnostic test or assay." [] |
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