| 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: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:0000029 | Testicular atrophy | |
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| HP:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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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:0000505 | Impaired vision | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| 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:0000544 | External ophthalmoplegia | |
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| HP:0000572 | Visual loss | |
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| HP:0000590 | External ophthalmoplegia, progressive (PEO) | |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0000618 | Blindness | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000649 | Abnormality of vision evoked potentials | |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000712 | Emotional lability | |
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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:0000726 | Dementia | |
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| HP:0000786 | Primary amenorrhea | |
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| HP:0000815 | Hypergonadotropic hypogonadism | "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." [HPO:curators] |
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| HP:0000869 | Secondary amenorrhea | |
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| HP:0000872 | Hashimoto thyroiditis | |
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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:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001259 | Coma | |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001266 | Choreoathetosis | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001276 | Hypertonia | |
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| HP:0001284 | Areflexia | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [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:0001394 | Cirrhosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001403 | Macrovesicular steatosis | |
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| HP:0001408 | Bile duct proliferation | |
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| HP:0001413 | Micronodular cirrhosis | |
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| HP:0001414 | Microvesicular steatosis | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001618 | Dysphonia | |
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| HP:0001634 | Mitral valve prolapse | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001751 | Vestibular dysfunction | |
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| HP:0001761 | Pes cavus | |
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| HP:0001903 | Anemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002018 | Nausea | |
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| HP:0002019 | Constipation | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002024 | Malabsorption | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002063 | Rigidity | |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002067 | Bradykinesia | "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [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:0002070 | Limb ataxia | |
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| HP:0002076 | Migraine | |
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| HP:0002133 | Status epilepticus | |
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| HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
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| HP:0002171 | Gliosis | |
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| HP:0002191 | Spasticity, progressive | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002254 | Intermittent diarrhea | |
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| HP:0002313 | Spastic paraparesis | |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002322 | Resting tremor | "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:curators] |
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| HP:0002352 | Leukoencephalopathy | |
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| HP:0002376 | Developmental regression | |
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| HP:0002403 | Positive Romberg sign | |
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| HP:0002406 | Limb dysmetria | |
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| HP:0002446 | Astrocytosis | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002495 | Impaired vibratory sense | "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:curators] |
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| HP:0002500 | Abnormality of the cerebral white matter | |
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| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
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| HP:0002548 | Favorable response to levodopa | |
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| HP:0002578 | Gastroparesis | |
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| HP:0002579 | Gastrointestinal dysmotility | |
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| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0002922 | Increased CSF protein | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
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| HP:0003199 | Decreased muscle mass | |
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| HP:0003200 | Ragged-red muscle fibers | "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome (GT) staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged." [HPO:curators] |
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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:0003219 | Ethylmalonic aciduria | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003323 | Muscle weakness, progressive | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003348 | Hyperalaninemia | |
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| 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." [HPO:curators] |
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| HP:0003387 | Loss of large myelinated fibers | |
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| HP:0003388 | Easy fatigability | |
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| HP:0003390 | Sensory axonal neuropathy | "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003434 | Sensory ataxic neuropathy | |
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| HP:0003448 | Decreased sensory nerve conduction velocities (NCV) | |
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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: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:0003477 | Axonal neuropathy | |
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| HP:0003535 | 3-Methylglutaconic aciduria | |
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| HP:0003542 | Increased serum pyruvate | "An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle." [HPO:curators] |
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| HP:0003546 | Exercise intolerance | |
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| HP:0003548 | Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria | |
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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:0003581 | Onset in adulthood | |
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| HP:0003593 | Early onset | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003678 | Rapidly progressive | |
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| HP:0003688 | Muscle biopsy shows decreased activity of cytochrome C oxidase | |
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| HP:0003689 | Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions | |
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| HP:0003690 | Limb muscle weakness | "Weakness of the muscles of the arms and legs." [HPO:curators] |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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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:0003713 | Muscle fiber necrosis | "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [HPO:curators] |
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| HP:0003737 | Mitochondrial myopathy | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004326 | Cachexia | |
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| HP:0004389 | Intestinal pseudo-obstruction | |
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| HP:0004395 | Malnutrition | |
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| HP:0004396 | Poor appetite | |
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| HP:0006858 | Distal sensory loss of proprioception and vibration sense | |
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| HP:0006886 | Decreased distal vibration sense | "A decrease in the ability to perceive vibration in the distal portions of the limbs." [HPO:curators] |
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| HP:0006964 | Cerebral cortical neurodegeneration | |
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| HP:0007103 | Hypodensity of cerebral white matter on MRI | |
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| HP:0007108 | Demyelinating peripheral neuropathy | |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0007240 | Progressive gait ataxia | |
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| HP:0007344 | Atrophy/Degeneration involving the spinal cord | |
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| HP:0007359 | Partial seizures | "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators] |
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| HP:0007641 | Secondary dyschromatopsia | |
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| HP:0008049 | Abnormality of the extraocular muscles | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0008209 | Premature ovarian failure | |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0012079 | Abnormality of central motor conduction | "Any anomaly of the conduction of motor nerve impulses in the central nervous system." [HPO:probinson, pmid:3572430] |
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| HP:0012103 | Abnormality of the mitochondrion | "An anomaly of the `mitochondrion` (FMA:63835), the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The `mitochondrion` (GO:0005739) is a self replicating organelle that is the site of tissue respiration." [HPO:probinson] |
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| HP:0012251 | ST segment elevation | "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson] |
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| HP:0012847 | Epilepsia partialis continua | "A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals." [UToronto:htrang] |
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| HP:0012850 | Small intestinal dysmotility | "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [HPO:probinson] |
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| HP:0025149 | Atrophic muscularis propria | "Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis." [PMID:18329691] |
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| HP:0025461 | Abnormal cell morphology | "Any anomaly of cell structure." [] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100613 | Death in early adulthood | |
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| HP:0100704 | Cortical visual impairment | "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson] |
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