| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000924 | Abnormality of the musculoskeletal system | "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001293 | Cranial nerve compression | |
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| HP:0001397 | Hepatic steatosis | |
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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:0001638 | Cardiomyopathy | |
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| HP:0002145 | Frontotemporal dementia | |
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| HP:0002300 | Mutism | |
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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:0002442 | Dyscalculia | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002463 | Language impairment | |
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| HP:0002493 | Corticospinal tract dysfunction | |
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| HP:0002515 | Waddling gait | |
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| HP:0002648 | Abnormality of skull shape | "An abnormality of the shape of the skull." [HPO:curators] |
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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:0002797 | Osteolysis | |
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| HP:0002839 | Sphincter disturbances (bladder) | |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003198 | Myopathy | |
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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:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003390 | Sensory axonal neuropathy | "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] |
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| HP:0003444 | EMG shows chronic denervation | |
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| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
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| HP:0003557 | Increased variability in muscle fiber size | "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
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| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
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| HP:0003687 | Centralized nuclei | |
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| HP:0003700 | Generalized amyotrophy | "Generalized wasting of loss of muscle tissue." [HPO:curators] |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0003805 | Rimmed vacuoles | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004347 | Abnormal weakness of muscles of respiration | |
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| HP:0004490 | Calvarial hyperostosis | "Excessive growth of the calvarial bone." [HPO:curators] |
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| HP:0007002 | Sensory and motor axonal neuropathy | |
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| HP:0007354 | Amyotrophic lateral sclerosis | |
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| HP:0011314 | Abnormality of long bone morphology | "An abnormality of size or shape of the `long bones` (FMA:7474)." [HPO:probinson] |
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| HP:0012083 | Ubiquitin-positive cerebral inclusion bodies | "Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain." [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:0012548 | Skeletal muscle fatty infiltration | "Deposition of fat within muscles." [HPO:probinson] |
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| HP:0030838 | Hip pain | "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip." [UToronto:chum] |
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| HP:0100295 | Muscle fiber atrophy | |
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| HP:0100614 | Myositis | "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken] |
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