| 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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| HP:0000238 | Hydrocephalus | |
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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:0000712 | Emotional lability | |
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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:0000751 | Personality changes | |
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| HP:0000757 | Lack of insight | |
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| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
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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:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001276 | Hypertonia | |
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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: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:0001376 | Decreased mobility of joints | |
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| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002059 | Cerebral atrophy | |
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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:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002094 | Dyspnea | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002127 | Upper motor neuron abnormality | |
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| HP:0002135 | Basal ganglia calcification | "Calcification affecting one or more structures of the basal ganglia." [HPO:curators] |
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| HP:0002145 | Frontotemporal dementia | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002171 | Gliosis | |
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| HP:0002180 | Neurodegeneration | |
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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:0002340 | Caudate atrophy | |
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| HP:0002352 | Leukoencephalopathy | |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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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:0002376 | Developmental regression | |
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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: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:0002488 | Acute leukemia | |
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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:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002653 | Bone pain | |
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| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| HP:0002829 | Arthralgia | |
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| HP:0002878 | Early respiratory failure | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003394 | Muscle cramps | |
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| HP:0003447 | Axonal loss | |
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| 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." [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:0003791 | Deposits immunoreactive to beta-amyloid protein | |
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| HP:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0005945 | Laryngeal obstruction | |
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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:0009124 | Abnormality of adipose tissue | "An abnormality of adipose (or fat) tissue, which is loose connective tissue composed of adipocytes." [HPO:curators] |
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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:0011096 | Peripheral demyelination | "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [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:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [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:0012531 | Pain | "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] |
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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:0012719 | Functional abnormality of the gastrointestinal tract | "Abnormal functionality of the gastrointestinal tract." [HPO:probinson] |
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| 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." [pmid:17986328, UK:rheller] |
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| 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." [UNCL:mbertoli] |
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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:0100256 | Senile plaques | "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken] |
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| HP:0500014 | Abnormal test result | "Abnormal finding in a diagnostic test or assay." [] |
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