The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.
Gene: GBE1
Cytoband position: 3p12.2
OMIM: 607839
RVIS score: 0.62
RVIS percentage: 83.53
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormality of extrapyramidal motor function | HP:0002071 | HP:0006810,HP:0007113 | A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). |
| Peripheral neuropathy | HP:0009830 | HP:0003157,HP:0003407,HP:0007088,HP:0007235,HP:0007355 | Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. |
| Somatic sensory dysfunction | HP:0003474 | HP:0100964 | An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. |
| Abnormality of the immune system | HP:0002715 | HP:0003257,HP:0003346,HP:0010986 | An abnormality of the immune system. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Tubulointerstitial fibrosis | HP:0005576 | HP:0000129,HP:0004714,HP:0008171 | A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. |
| Arrhythmia | HP:0011675 | HP:0001656,HP:0001661,HP:0001665,HP:0001666,HP:0001675,HP:0001687,HP:0001721,HP:0004351,HP:0005158 | Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. |
| Weakness due to upper motor neuron dysfunction | HP:0010549 | None | 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. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. |
| Spastic paraplegia | HP:0001258 | HP:0007062,HP:0007124,HP:0007216 | Spasticity and weakness of the leg and hip muscles. |
| Ataxia | HP:0001251 | HP:0001253,HP:0002513,HP:0007050,HP:0007157 | 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). |
| Abnormal motor neuron morphology | HP:0002450 | None | Any structural anomaly that affects the motor neuron. |
| Increased blood pressure | HP:0032263 | None | Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. |
| Urinary incontinence | HP:0000020 | HP:0006942,HP:0008681 | Loss of the ability to control the urinary bladder leading to involuntary urination. |
| Abnormal systemic blood pressure | HP:0030972 | None | A chronic deviation from normal pressure in the systemic arterial system. |
| Cognitive impairment | HP:0100543 | HP:0002128,HP:0002129,HP:0002302,HP:0002337,HP:0002441,HP:0006972,HP:0006998,HP:0007211 | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. |
| Pace of progression | HP:0003679 | None | None |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Gait disturbance | HP:0001288 | HP:0006953 | 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. |
| Distal sensory impairment | HP:0002936 | HP:0003476,HP:0006843,HP:0006845,HP:0006922,HP:0006971,HP:0006993,HP:0007138,HP:0007292,HP:0007296 | An abnormal reduction in sensation in the distal portions of the extremities. |
| Abnormality of cardiovascular system electrophysiology | HP:0030956 | None | An anomaly of the electrical conduction physiology of the heart. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Skeletal muscle atrophy | HP:0003202 | HP:0001299,HP:0003545,HP:0003671,HP:0003702,HP:0003746,HP:0006995,HP:0007171,HP:0007356,HP:0009010,HP:0009048,HP:0100868 | The presence of skeletal muscular atrophy (which is also known as amyotrophy). |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Mental deterioration | HP:0001268 | HP:0002303,HP:0006822,HP:0007155,HP:0007253,HP:0007264,HP:0007298 | Loss of previously present mental abilities, generally in adults. |
| Peripheral axonal neuropathy | HP:0003477 | HP:0006814,HP:0006842,HP:0007169,HP:0008304 | An abnormality characterized by disruption of the normal functioning of peripheral axons. |
| Intellectual disability | HP:0001249 | HP:0000730,HP:0001267,HP:0001286,HP:0002122,HP:0002192,HP:0002316,HP:0002382,HP:0002386,HP:0002402,HP:0002458,HP:0002482,HP:0002499,HP:0002543,HP:0003767,HP:0006833,HP:0006877,HP:0007154,HP:0007176,HP:0007180 | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| Decreased fetal movement | HP:0001558 | HP:0001559,HP:0006840,HP:0007630,HP:0007631 | An abnormal reduction in quantity or strength of fetal movements. |
| Peripheral axonal degeneration | HP:0000764 | HP:0006787,HP:0006876,HP:0007304 | Progressive deterioration of peripheral axons. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Muscle spasm | HP:0003394 | HP:0009018,HP:0031988 | Sudden and involuntary contractions of one or more muscles. |
| Clinical modifier | HP:0012823 | HP:0000004 | This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Hypotension | HP:0002615 | HP:0005127,HP:0006701 | Low Blood Pressure, vascular hypotension. |
| Orthostatic hypotension | HP:0001278 | HP:0004932,HP:0006700 | A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. |
| Renal fibrosis | HP:0030760 | None | Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. |
| Abnormal exteroceptive sensation | HP:0033747 | None | A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. |
| Abnormal renal morphology | HP:0012210 | HP:0000792,HP:0004726,HP:0004735,HP:0008712 | Any structural anomaly of the kidney. |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Abnormal neuron morphology | HP:0012757 | None | A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. |
| Abnormal peripheral nervous system morphology | HP:0000759 | HP:0003483 | A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). |
| EMG abnormality | HP:0003457 | HP:0002177,HP:0003751,HP:0003753,HP:0100286 | Abnormal results of investigations using electromyography (EMG). |
| Abnormal gastrointestinal tract morphology | HP:0012718 | None | Abnormal structure of the gastrointestinal tract. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Dementia | HP:0000726 | HP:0002274,HP:0007122,HP:0007150,HP:0007283 | A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. |
| Atypical behavior | HP:0000708 | HP:0000715,HP:0002368,HP:0002456 | Atypical behavior is an abnormality in a person's actions, which 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. |
| Abnormality of the hepatic vasculature | HP:0006707 | None | An abnormality of the hepatic vasculature. |
| Abnormality of the musculature | HP:0003011 | HP:0003197,HP:0003708,HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Abnormal cardiovascular system morphology | HP:0030680 | HP:0001632,HP:0002564,HP:0002565 | Any structural anomaly of the heart and blood vessels. |
| Antenatal onset | HP:0030674 | None | Onset prior to birth. |
| Slowly progressive | HP:0003677 | HP:0003675,HP:0003681 | Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. |
| Progressive | HP:0003676 | None | Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. |
| Onset | HP:0003674 | HP:0003588,HP:0003590,HP:0003597,HP:0003602,HP:0003603,HP:0003618,HP:0003626,HP:0003628,HP:0003630,HP:0003663,HP:0003664,HP:0003668,HP:0011007 | The age group in which disease manifestations appear. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Adult onset | HP:0003581 | HP:0003585,HP:0003598,HP:0003627,HP:0003662,HP:0003669 | Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. |
| Decreased liver function | HP:0001410 | HP:0004393,HP:0005228,HP:0006570 | Reduced ability of the liver to perform its functions. |
| Abnormal nephron morphology | HP:0012575 | None | A structural anomaly of the nephron. |
| Middle age onset | HP:0003596 | None | A type of adult onset with onset of symptoms at the age of 40 to 60 years. |
| Abnormality of connective tissue | HP:0003549 | None | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Abnormal pyramidal sign | HP:0007256 | HP:0003488,HP:0007161,HP:0007225,HP:0007275,HP:0007324,HP:0007347 | Functional neurological abnormalities related to dysfunction of the pyramidal tract. |
| Abnormal brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Absent Achilles reflex | HP:0003438 | HP:0007032,HP:0007241 | Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. |
| Paresthesia | HP:0003401 | HP:0002082 | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. |
| Abnormal autonomic nervous system physiology | HP:0012332 | HP:0002271,HP:0002387,HP:0002459,HP:0007310 | A functional abnormality of the autonomic nervous system. |
| Abnormality of muscle size | HP:0030236 | None | Abnormalities of the overall muscle bulk based on clinical observation. |
| Visceromegaly | HP:0003271 | None | Abnormal increased size of the viscera of the abdomen. |
| Splenomegaly | HP:0001744 | HP:0001745,HP:0006269 | Abnormal increased size of the spleen. |
| Tetraplegia/tetraparesis | HP:0030182 | None | Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008658,HP:0008688,HP:0008704,HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Limitation of joint mobility | HP:0001376 | HP:0003101 | A reduction in the freedom of movement of one or more joints. |
| Abnormal heart morphology | HP:0001627 | HP:3000001 | Any structural anomaly of the heart. |
| Abnormality of the lymphatic system | HP:0100763 | HP:0003012 | An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. |
| Abnormal renal tubule morphology | HP:0000091 | None | An abnormality of the renal tubules. |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Abnormality of the kidney | HP:0000077 | None | An abnormality of the kidney. |
| Muscle weakness | HP:0001324 | HP:0002309,HP:0008979,HP:0009012,HP:0009061 | Reduced strength of muscles. |
| Urinary bladder sphincter dysfunction | HP:0002839 | HP:0000018 | Abnormal function of a sphincter of the urinary bladder. |
| Abnormality of the bladder | HP:0000014 | None | An abnormality of the urinary bladder. |
| Neurogenic bladder | HP:0000011 | None | A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. |
| Functional abnormality of the bladder | HP:0000009 | HP:0004424,HP:0008731 | Dysfunction of the urinary bladder. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001416,HP:0001526,HP:0031362 | 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). |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| All | HP:0000001 | None | None |
| Abnormal cerebral subcortex morphology | HP:0010993 | None | An abnormality of the cerebral subcortex. |
| Abnormality of the upper urinary tract | HP:0010935 | None | An abnormality of the upper urinary tract. |
| Abnormality of the lower urinary tract | HP:0010936 | None | An abnormality of the lower urinary tract. |
| Abnormal tubulointerstitial morphology | HP:0001969 | HP:0008654 | An abnormality that involves the tubules and interstitial tissue of the kidney. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Abnormal reflex | HP:0031826 | None | Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). |
| Abnormal circulating protein concentration | HP:0010876 | None | An abnormal level of a circulating protein in the blood. |
| Talipes | HP:0001883 | None | A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. |
| Abnormal forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Decreased body weight | HP:0004325 | HP:0001823,HP:0001826 | Abnormally low body weight. |
| Clinical course | HP:0031797 | None | The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Hydrops fetalis | HP:0001789 | HP:0005099 | The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. |
| Talipes equinovarus | HP:0001762 | None | Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. |
| Abnormal foot morphology | HP:0001760 | HP:0010216,HP:0010611 | An abnormality of the skeleton of foot. |
| Abnormality of the spleen | HP:0001743 | None | An abnormality of the spleen. |
| Bradycardia | HP:0001662 | None | A slower than normal heart rate (in adults, slower than 60 beats per minute). |
| Cardiomyopathy | HP:0001638 | None | A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. |
| Abnormal myocardium morphology | HP:0001637 | None | A structural anomaly of the muscle layer of the heart wall. |
| Prenatal movement abnormality | HP:0001557 | HP:0007629 | An abnormality of fetal movement. |
| Abnormal tendon morphology | HP:0100261 | None | An abnormality of the structure or form of the tendons, also often called sinews. |
| Paraplegia | HP:0010550 | None | Severe or complete weakness of both lower extremities with sparing of the upper extremities. |
| Paraplegia/paraparesis | HP:0010551 | None | Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Polyhydramnios | HP:0001561 | HP:0005098 | The presence of excess amniotic fluid in the uterus during pregnancy. |
| Abnormality of the amniotic fluid | HP:0001560 | None | Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. |
| Ascites | HP:0001541 | None | Accumulation of fluid in the peritoneal cavity. |
| Failure to thrive | HP:0001508 | HP:0001535,HP:0008853,HP:0008878,HP:0008916 | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| Abnormal joint physiology | HP:0034430 | None | None |
| Abnormal CSF protein concentration | HP:0025456 | None | Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. |
| Abnormal spleen morphology | HP:0025408 | None | Any anomaly of the structure of the spleen. |
| Abnormal abdomen morphology | HP:0001438 | None | A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. |
| Hepatosplenomegaly | HP:0001433 | None | Simultaneous enlargement of the liver and spleen. |
| Portal hypertension | HP:0001409 | None | Increased pressure in the portal vein. |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Hemiplegia/hemiparesis | HP:0004374 | None | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. |
| Joint contracture | HP:0034392 | None | A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. |
| Appendicular spasticity | HP:0034353 | None | A type of spasticity that affects one or more limbs (arms or legs). |
| Mendelian inheritance | HP:0034345 | None | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| Hepatic failure | HP:0001399 | None | None |
| Hepatomegaly | HP:0002240 | HP:0001393,HP:0001398 | Abnormally increased size of the liver. |
| Cirrhosis | HP:0001394 | None | A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. |
| Abnormality of the liver | HP:0001392 | None | An abnormality of the liver. |
| Arthrogryposis multiplex congenita | HP:0002804 | HP:0001389,HP:0001390,HP:0002759,HP:0005188,HP:0005663,HP:0005809,HP:0005859 | Multiple congenital contractures in different body areas. |
| Flexion contracture | HP:0001371 | HP:0001372,HP:0001381,HP:0005053,HP:0005189,HP:0005660 | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0002405,HP:0002413,HP:0002481,HP:0007319 | A structural abnormality of the central nervous system. |
| Reduced tendon reflexes | HP:0001315 | HP:0001316 | Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. |
| Areflexia | HP:0001284 | HP:0001314 | Absence of neurologic reflexes such as the knee-jerk reaction. |
| Hypertonia | HP:0001276 | HP:0002388 | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Hemiparesis | HP:0001269 | None | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. |
| Hyporeflexia | HP:0001265 | HP:0002467 | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| Spasticity | HP:0001257 | None | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| Hypotonia | HP:0001252 | HP:0011398 | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| Third trimester onset | HP:0034197 | None | This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. |
| Abnormality of hepatobiliary system physiology | HP:0025155 | None | A functional anomaly of the hepatobiliary system |
| Constitutional symptom | HP:0025142 | None | A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. |
| Abnormality of prenatal development or birth | HP:0001197 | None | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Abnormal circulating creatine kinase concentration | HP:0040081 | None | Any deviation from the normal circulating creatine kinase concentration. |
| Abnormality of limbs | HP:0040064 | None | None |
| Impaired continence | HP:0031064 | None | Partial or total incontinence of bowel or bladder. |
| Impairment of activities of daily living | HP:0031058 | None | Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. |
| Abnormal fetal physiology | HP:0034059 | None | Any functional anomaly of the fetus. |
| Fetal anomaly | HP:0034057 | None | Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. |
| Abnormal fetal morphology | HP:0034058 | None | Any structural anomaly of the fetus. |
| Abnormal digestive system morphology | HP:0025033 | None | A structural anomaly of the digestive system. |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormal liver morphology | HP:0410042 | None | Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. |
| Abnormality of the peripheral nervous system | HP:0410008 | None | Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. |
| Increased CSF protein concentration | HP:0002922 | None | Increased concentration of protein in the cerebrospinal fluid. |
| Abnormal cerebrospinal fluid morphology | HP:0002921 | None | An abnormality of the cerebrospinal fluid (CSF). |
| Abnormal musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Congenital contracture | HP:0002803 | None | One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Decreased/absent ankle reflexes | HP:0200101 | None | None |
| Abnormal cerebral white matter morphology | HP:0002500 | HP:0200100 | An abnormality of the cerebral white matter. |
| Positional foot deformity | HP:0005656 | None | A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. |
| Skin ulcer | HP:0200042 | None | A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. |
| Abnormal renal insterstitial morphology | HP:0032581 | None | Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. |
| Abnormality of the vasculature | HP:0002597 | None | An abnormality of the vasculature. |
| Areflexia of lower limbs | HP:0002522 | None | Inability to elicit tendon reflexes in the lower limbs. |
| Upper motor neuron dysfunction | HP:0002493 | None | A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. |
| Fetal onset | HP:0011461 | None | Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). |
| Abnormality of coordination | HP:0011443 | None | None |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Localized skin lesion | HP:0011355 | None | A lesion of the skin that is located in a specific region rather than being generalized. |
| Tetraparesis | HP:0002273 | HP:0002338 | Weakness of all four limbs. |
| Abnormality of the autonomic nervous system | HP:0002270 | None | An abnormality of the autonomic nervous system. |
| Abnormal circulating metabolite concentration | HP:0032180 | None | An abnormal level of an analyte measured in the blood. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Abnormal upper motor neuron morphology | HP:0002127 | None | Any structural anomaly that affects the upper motor neuron. |
| Lower limb spasticity | HP:0002061 | None | 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 |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Abnormal circulating enzyme concentration | HP:0011021 | None | The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range. |
| Esophageal varix | HP:0002040 | None | Extreme dilation of the submucusoal veins in the lower portion of the esophagus. |
| Abnormal esophagus morphology | HP:0002031 | None | A structural abnormality of the esophagus. |
| Abnormality of the abdominal organs | HP:0002012 | None | An abnormality of the viscera of the abdomen. |