Gene: SCN9A
Cytoband position: 2q24.3
OMIM: 603415
RVIS score: 0.33
RVIS percentage: 73.63
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormal nerve conduction velocity | HP:0040129 | None | None |
| Impaired temperature sensation | HP:0010829 | HP:0006901,HP:0100772 | A reduced ability to discriminate between different temperatures. |
| 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). |
| Autistic behavior | HP:0000729 | None | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of 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. |
| Abnormal bone structure | HP:0003330 | None | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| Non-motor seizure | HP:0033259 | None | A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. |
| 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. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001415,HP:0001447,HP:0001448,HP:0001451,HP:0001452,HP:0001455,HP:0001456,HP:0001463 | 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. |
| 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. |
| Gastroesophageal reflux | HP:0002020 | HP:0004793 | A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. |
| Pes planus | HP:0001763 | None | A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. |
| Abnormality of bone mineral density | HP:0004348 | None | This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. |
| 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. |
| Interictal EEG abnormality | HP:0025373 | None | Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. |
| 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). |
| Bilateral tonic-clonic seizure with generalized onset | HP:0025190 | None | A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. |
| Keratoconjunctivitis sicca | HP:0001097 | None | Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. |
| Feeding difficulties in infancy | HP:0008872 | HP:0002016,HP:0002022,HP:0002568 | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| Myoclonic seizure | HP:0032794 | None | A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. |
| Cogwheel rigidity | HP:0002396 | None | A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). |
| Focal impaired awareness seizure | HP:0002384 | HP:0002278 | Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. |
| Status epilepticus | HP:0002133 | None | Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. |
| 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. |
| Decreased sensory nerve conduction velocity | HP:0003448 | HP:0006914 | Reduced speed of conduction of the action potential along a sensory nerve. |
| Urinary incontinence | HP:0000020 | HP:0006942,HP:0008681 | Loss of the ability to control the urinary bladder leading to involuntary urination. |
| 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. |
| 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. |
| 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. |
| Seizure | HP:0001250 | HP:0001275,HP:0001303,HP:0002125,HP:0002182,HP:0002279,HP:0002306,HP:0002348,HP:0002391,HP:0002417,HP:0002430,HP:0002431,HP:0002432,HP:0002434,HP:0002437,HP:0002466,HP:0002479,HP:0002794,HP:0006997,HP:0010520 | A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| 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). |
| Pruritus | HP:0000989 | None | Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. |
| Pace of progression | HP:0003679 | None | None |
| Pallor | HP:0000980 | None | Abnormally pale skin. |
| Hyperhidrosis | HP:0000975 | HP:0001011,HP:0001064,HP:0007424 | Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. |
| Anhidrosis | HP:0000970 | None | Inability to sweat. |
| Hypohidrosis | HP:0000966 | HP:0007551,HP:0007571 | Abnormally diminished capacity to sweat. |
| Cyanosis | HP:0000961 | None | Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| Abnormal epiphysis morphology | HP:0005930 | HP:0000936 | An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. |
| Abnormality of the vertebral column | HP:0000925 | None | Any abnormality of the vertebral column. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Generalized myoclonic seizure | HP:0002123 | HP:0006869,HP:0006902,HP:0007075,HP:0007202,HP:0007284,HP:0007294 | A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. |
| Abnormal tongue physiology | HP:0030810 | None | Any functional anomaly of the tongue. |
| Cerebral atrophy | HP:0002059 | HP:0002422,HP:0006890 | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Abnormal ocular adnexa morphology | HP:0030669 | None | A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Osteolytic defects of the hand bones | HP:0009699 | HP:0004282,HP:0006082 | None |
| Focal hemiclonic seizure | HP:0006813 | None | A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. |
| 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. |
| Abnormality of peripheral nerve conduction | HP:0003134 | HP:0006832,HP:0007186 | An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). |
| Developmental regression | HP:0002376 | HP:0002471,HP:0002489,HP:0006797,HP:0006828,HP:0006854,HP:0007037,HP:0007242,HP:0007247 | Loss of developmental skills, as manifested by loss of developmental milestones. |
| EEG abnormality | HP:0002353 | HP:0001346,HP:0002429,HP:0006841 | Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. |
| 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. |
| Epilepsia partialis continua | HP:0012847 | None | Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). |
| 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. |
| Abnormality of the upper limb | HP:0002817 | HP:0003838 | An abnormality of the arm. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Leukemia | HP:0001909 | HP:0005519,HP:0006726 | A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. |
| Neoplasm | HP:0002664 | HP:0003008,HP:0006741 | An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). |
| Abnormal jaw morphology | HP:0030791 | None | A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. |
| Osteolytic defects of the phalanges of the hand | HP:0009771 | HP:0001179 | Dissolution or degeneration of bone tissue of the phalanges of the hand. |
| 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. |
| 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. |
| Constipation | HP:0002019 | HP:0002241,HP:0003786 | Infrequent or difficult evacuation of feces. |
| Excessive salivation | HP:0003781 | None | Excessive production of saliva. |
| Decreased nerve conduction velocity | HP:0000762 | HP:0000761,HP:0007118,HP:0007218,HP:0007231 | A reduction in the speed at which electrical signals propagate along the axon of a neuron. |
| 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). |
| Functional abnormality of the gastrointestinal tract | HP:0012719 | None | Abnormal functionality of the gastrointestinal tract. |
| Anxiety | HP:0000739 | None | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Short attention span | HP:0000736 | None | Reduced attention span characterized by distractibility and impulsivity. |
| Disinhibition | HP:0000734 | None | Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. |
| Abnormality of the immune system | HP:0002715 | HP:0003257,HP:0003346,HP:0010986 | An abnormality of the immune system. |
| Compulsive behaviors | HP:0000722 | None | Behavior that consists of repetitive acts, characterized by the feeling that one \"has to\" perform them, while being aware that these acts are not in line with one's overall goal. |
| Myalgia | HP:0003326 | HP:0003718 | Pain in muscle. |
| 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. |
| Increased inflammatory response | HP:0012649 | None | A abnormal increase in the inflammatory response to injury or infection. |
| Abnormal inflammatory response | HP:0012647 | None | Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| 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. |
| Infantile onset | HP:0003593 | HP:0003576,HP:0003579,HP:0003591,HP:0003594,HP:0003599,HP:0003600,HP:0003629,HP:0003631,HP:0003667,HP:0003672,HP:0010573 | Onset of signs or symptoms of disease between 28 days to one year of life. |
| Juvenile onset | HP:0003621 | HP:0003578,HP:0003580,HP:0003582,HP:0003583,HP:0003589,HP:0003592,HP:0003604,HP:0003619,HP:0003620,HP:0003625,HP:0003659,HP:0003661,HP:0003670 | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| 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. |
| Congenital onset | HP:0003577 | HP:0003595,HP:0003601,HP:0003624,HP:0003660,HP:0003666 | A phenotypic abnormality that is present at birth. |
| Lacrimation abnormality | HP:0000632 | HP:0000521 | Abnormality of tear production. |
| Neonatal onset | HP:0003623 | HP:0003622 | Onset of signs or symptoms of disease within the first 28 days of life. |
| Blurred vision | HP:0000622 | HP:0007723 | Lack of sharpness of vision resulting in the inability to see fine detail. |
| Pain | HP:0012531 | None | An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. |
| Conjunctivitis | HP:0000509 | None | Inflammation of the conjunctiva. |
| Abnormality of vision | HP:0000504 | None | Abnormality of eyesight (visual perception). |
| Abnormal conjunctiva morphology | HP:0000502 | None | An abnormality of the conjunctiva. |
| Keratitis | HP:0000491 | None | Inflammation of the cornea. |
| Abnormal eye morphology | HP:0012372 | HP:0000489,HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormal cornea morphology | HP:0000481 | HP:0007771,HP:0007972 | Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. |
| Abnormal brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Abnormal myelination | HP:0012447 | None | Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. |
| Brain atrophy | HP:0012444 | None | Partial or complete wasting (loss) of brain tissue that was once present. |
| 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 eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Limited neck range of motion | HP:0000466 | None | None |
| Abnormality of the neck | HP:0000464 | None | An abnormality of the neck. |
| Anosmia | HP:0000458 | None | An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. |
| Abnormal peripheral myelination | HP:0003130 | HP:0003408 | An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. |
| Pain insensitivity | HP:0007021 | HP:0003404 | Inability to perceive painful stimuli. |
| Paresthesia | HP:0003401 | HP:0002082 | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. |
| Abnormal blood vessel morphology | HP:0033353 | None | Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). |
| 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 the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Decreased number of peripheral myelinated nerve fibers | HP:0003380 | HP:0003385,HP:0003386,HP:0007093,HP:0007135,HP:0007177,HP:0007320,HP:0007322 | A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). |
| Abnormality of the orbital region | HP:0000315 | HP:0000284 | None |
| Hyperlordosis | HP:0003307 | HP:0002939 | Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. |
| Abnormality of muscle size | HP:0030236 | None | Abnormalities of the overall muscle bulk based on clinical observation. |
| Abnormal hip bone morphology | HP:0003272 | None | An abnormality of the hip bone. |
| Tapered finger | HP:0001182 | HP:0005795,HP:0005800,HP:0006032,HP:0006080,HP:0006098,HP:0006111,HP:0006125,HP:0006244,HP:0007532 | The gradual reduction in girth of the finger from proximal to distal. |
| Abnormal finger phalanx morphology | HP:0005918 | HP:0005786,HP:0006259 | Abnormalities affecting the phalanx of finger. |
| Abnormal respiratory system morphology | HP:0012252 | None | A structural anomaly of the respiratory system. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormal mandible morphology | HP:0000277 | HP:0000209 | Any abnormality of the mandible, the bone of the lower jaw. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of the fontanelles or cranial sutures | HP:0000235 | None | Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). |
| Abnormality of taste sensation | HP:0000223 | None | None |
| Hypogeusia | HP:0000224 | None | A decreased ability to perceive flavor. |
| Xerostomia | HP:0000217 | HP:0002709,HP:0100756 | Dryness of the mouth due to salivary gland dysfunction. |
| Abnormality of peripheral nervous system electrophysiology | HP:0030177 | None | An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. |
| Abnormality of central nervous system electrophysiology | HP:0030178 | None | None |
| Abnormal nervous system electrophysiology | HP:0001311 | HP:0002531,HP:0003129 | An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. |
| Abnormality of blood and blood-forming tissues | HP:0001871 | HP:0003135 | An abnormality of the hematopoietic system. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Abnormality of the tongue | HP:0000157 | None | Any abnormality of the tongue. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Osteolysis involving bones of the lower limbs | HP:0009139 | None | None |
| Osteolysis involving bones of the feet | HP:0009134 | None | None |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Acral ulceration | HP:0006121 | HP:0001226,HP:0001862,HP:0005040 | A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. |
| 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. |
| Abnormal cortical bone morphology | HP:0003103 | None | An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. |
| Limitation of joint mobility | HP:0001376 | HP:0003101 | A reduction in the freedom of movement of one or more joints. |
| Abnormal hand morphology | HP:0005922 | HP:0003098 | Any structural anomaly of the hand. |
| Abnormal finger morphology | HP:0001167 | HP:0003035 | An anomaly of a finger. |
| Limited knee extension | HP:0003066 | None | Reduced ability to extend (straighten) the knee joint. |
| Osteolysis involving bones of the upper limbs | HP:0045039 | None | None |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Abnormality of the ankle | HP:0003028 | None | An anomaly of the joint that connects the foot with the leg. |
| Long fingers | HP:0100807 | HP:0006010 | The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. |
| Abnormality of the bladder | HP:0000014 | None | An abnormality of the urinary bladder. |
| 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). |
| Paronychia | HP:0001818 | None | The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). |
| 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 |
| Abnormality of the periungual region | HP:0100803 | None | An abnormality of the region around the nails of the fingers or toes. |
| Abnormal experience of reality | HP:5200423 | None | Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences. |
| Abnormal judgment | HP:5200401 | None | Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation. |
| Abnormality of salivation | HP:0100755 | None | None |
| Abnormal long bone morphology | HP:0011314 | HP:0100713,HP:0100714,HP:0100715 | An abnormality of size or shape of the long bones. |
| Impulsivity | HP:0100710 | None | Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress. |
| Digital ulcer | HP:0031917 | None | An open sore on the surface of the skin of a finger or toe. |
| Abnormality of immune system physiology | HP:0010978 | None | A functional abnormality of the immune system. |
| Abnormal cellular immune system morphology | HP:0010987 | None | An abnormality of the morphology or counts of the cells that make up the immune system. |
| Abnormality of the lower urinary tract | HP:0010936 | None | An abnormality of the lower urinary tract. |
| Tibial torsion | HP:0100694 | None | Twisted position of the tibia (shin bone) associated with pathological rotation of the leg. |
| Palpitations | HP:0001962 | HP:0001676 | A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Recurrent maladaptive behavior | HP:5200241 | None | A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions. |
| Maladaptive fear-related cognitions | HP:5200230 | None | Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli. |
| Inflammatory abnormality of the eye | HP:0100533 | HP:0007891 | Inflammation of the eye, parts of the eye or the periorbital region. |
| Abnormal oral physiology | HP:0031815 | None | A functional anomaly of the mouth (which is also known as the oral cavity). |
| 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). |
| Generalized tonic seizure | HP:0010818 | HP:0002184 | A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. |
| Atonic seizure | HP:0010819 | HP:0002124 | Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. |
| Impaired proprioception | HP:0010831 | HP:0010870 | A loss or impairment of the sensation of the relative position of parts of the body and joint position. |
| Abnormality of pain sensation | HP:0010832 | None | Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. |
| Impaired tactile sensation | HP:0010830 | None | A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. |
| EEG with generalized epileptiform discharges | HP:0011198 | HP:0010842 | EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. |
| EEG with focal epileptiform discharges | HP:0011185 | HP:0010840 | EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| Multifocal epileptiform discharges | HP:0010841 | None | An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). |
| EEG with spike-wave complexes | HP:0010850 | None | Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| Abnormal leukocyte morphology | HP:0001881 | None | An abnormality of leukocytes. |
| Abnormality of thrombocytes | HP:0001872 | HP:0004807,HP:0005554 | An abnormality of platelets. |
| Foot acroosteolysis | HP:0001842 | None | None |
| Abnormal forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Dystrophic toenail | HP:0001810 | HP:0007558 | Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. |
| Osteolysis | HP:0002797 | HP:0010737 | Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. |
| Erythema | HP:0010783 | None | Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. |
| Photosensitive tonic-clonic seizure | HP:0007207 | None | Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. |
| Abnormality of lower limb joint | HP:0100491 | HP:0100239 | None |
| Abnormal toe morphology | HP:0001780 | None | An anomaly of a toe. |
| Abnormal foot morphology | HP:0001760 | HP:0010216,HP:0010611 | An abnormality of the skeleton of foot. |
| 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. |
| Tachycardia | HP:0001649 | HP:0001673,HP:0001720 | A rapid heartrate that exceeds the range of the normal resting heartrate for age. |
| Reduced attention regulation | HP:5200044 | None | An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention. |
| Abnormal ankle morphology | HP:0034673 | None | A structural anomaly of the ankle. |
| Abnormal knee physiology | HP:0034670 | None | A functional anomaly of the knee joint. |
| Abnormal neck physiology | HP:0025669 | None | Any functional anomaly of the neck region. |
| Abnormal curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Talipes valgus | HP:0004684 | None | Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. |
| Bradycardia | HP:0001662 | None | A slower than normal heart rate (in adults, slower than 60 beats per minute). |
| Pain in head and neck region | HP:0046506 | None | None |
| Infantile muscular hypotonia | HP:0008947 | HP:0002449,HP:0002523,HP:0010572 | Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. |
| Abnormality of the nail | HP:0001597 | None | Abnormality of the nail. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Hypohidrosis or hyperhidrosis | HP:0007550 | None | None |
| Limitation of knee mobility | HP:0010501 | HP:0005030,HP:0005192 | An abnormal limitation of knee joint mobility. |
| Status epilepticus without prominent motor symptoms | HP:0031475 | None | There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. |
| Rhinorrhea | HP:0031417 | None | Increased discharge of mucus from the nose. |
| Abnormal nasal mucus secretion | HP:0031416 | None | Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose. |
| Abnormality of the sense of smell | HP:0004408 | HP:0004410 | An anomaly in the ability to perceive and distinguish scents (odors). |
| Hyposmia | HP:0004409 | None | A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). |
| Abnormal joint physiology | HP:0034430 | None | None |
| Autoamputation of digits | HP:0007460 | None | The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. |
| 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. |
| Reduced bone mineral density | HP:0004349 | None | A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. |
| Abnormality of temperature regulation | HP:0004370 | None | An abnormality of temperature homeostasis. |
| Hematological neoplasm | HP:0004377 | None | Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). |
| Atrophy/Degeneration affecting the cerebrum | HP:0007369 | None | The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. |
| Atrophy/Degeneration affecting the central nervous system | HP:0007367 | None | None |
| Generalized non-convulsive status epilepticus without coma | HP:0032860 | None | Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. |
| Abnormal sensory nerve conduction velocity | HP:0040132 | None | None |
| Red eye | HP:0025337 | None | A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. |
| Abnormal joint morphology | HP:0001367 | None | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| Focal-onset seizure | HP:0007359 | HP:0002358,HP:0040168 | A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. |
| Abnormal morphology of the limbic system | HP:0007343 | None | Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. |
| Generalized-onset seizure | HP:0002197 | HP:0002409,HP:0007114,HP:0007339 | A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. |
| Tremor | HP:0001337 | HP:0001295,HP:0001309 | An unintentional, oscillating to-and-fro muscle movement about a joint axis. |
| Myoclonus | HP:0001336 | HP:0002535,HP:0007087 | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| Impaired pain sensation | HP:0007328 | HP:0002713 | Reduced ability to perceive painful stimuli. |
| Abnormal anterior eye segment morphology | HP:0004328 | None | An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). |
| Photosensitive myoclonic seizure | HP:0001327 | None | Generalised myoclonic seizure provoked by flashing or flickering light. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| 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. |
| Ventricular arrhythmia | HP:0004308 | None | None |
| Involuntary movements | HP:0004305 | HP:0007120 | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Bilateral tonic-clonic seizure | HP:0002069 | HP:0001306,HP:0002407,HP:0007252 | A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. |
| Parkinsonism | HP:0001300 | None | Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| Jaw pain | HP:0040264 | None | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. |
| Flushing | HP:0031284 | None | Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. |
| Abnormal corneal reflex | HP:0034251 | None | An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea. |
| Abnormality of skin adnexa physiology | HP:0025276 | None | Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. |
| Abnormal esophagus physiology | HP:0025270 | None | Any physiological abnormality of the esophagus. |
| Generalized hypotonia | HP:0001290 | None | Generalized muscular hypotonia (abnormally low muscle tone). |
| Atypical absence seizure | HP:0007270 | None | An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. |
| 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. |
| Hyporeflexia | HP:0001265 | HP:0002467 | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| Infection-related seizure | HP:0032892 | None | Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| 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. |
| Progressive gait ataxia | HP:0007240 | HP:0002142 | A type of gait ataxia displaying progression of clinical severity. |
| Abnormal fingernail morphology | HP:0001231 | None | An abnormality of the fingernails. |
| Autoamputation | HP:0001218 | None | Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology. |
| 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. |
| Osteolytic defects of the phalanges of the toes | HP:0010177 | None | None |
| Abnormal toe phalanx morphology | HP:0010161 | None | None |
| Dysgenesis of the hippocampus | HP:0025101 | None | Structural abnormality of the hippocampus related to defective development. |
| Abnormal hippocampus morphology | HP:0025100 | None | Any structural anomaly of the hippocampus, |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Generalized non-motor (absence) seizure | HP:0002121 | HP:0007143,HP:0011148 | A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. |
| Cortical dysplasia | HP:0002539 | HP:0007139 | The presence of developmental dysplasia of the cerebral cortex. |
| Febrile seizure (within the age range of 3 months to 6 years) | HP:0002373 | HP:0002175,HP:0007102 | A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormal lower limb bone morphology | HP:0040069 | HP:0040066 | None |
| Abnormal upper limb bone morphology | HP:0040070 | None | None |
| 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. |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Keratoconjunctivitis | HP:0001096 | None | Inflammation of the cornea and conjunctiva. |
| Abnormal vascular morphology | HP:0025015 | None | None |
| Episodic hyperhidrosis | HP:0001069 | None | Intermittent episodes of abnormally increased perspiration. |
| Generalized cerebral atrophy/hypoplasia | HP:0007058 | None | Generalized atrophy or hypoplasia of the cerebrum. |
| Poor fine motor coordination | HP:0007010 | None | An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. |
| Dermatological manifestations of systemic disorders | HP:0001005 | None | None |
| Anal pain | HP:0500005 | None | Pain in and around the anus or rectum (perianal region). |
| Pediatric onset | HP:0410280 | None | Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. |
| 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. |
| Respiratory tract infection | HP:0011947 | None | An infection of the upper or lower respiratory tract. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Abnormal tibia morphology | HP:0002992 | None | Abnormality of the tibia (shinbone). |
| Limitation of neck motion | HP:0005986 | None | None |
| Abnormality of the calf | HP:0002981 | None | An abnormality of the calf, i.e. of the posterior part of the lower leg. |
| Recurrent infections | HP:0002719 | HP:0002957,HP:0002964,HP:0005405 | Increased susceptibility to infections. |
| Abnormal respiratory system physiology | HP:0002795 | HP:0005952 | None |
| Increased susceptibility to fractures | HP:0002659 | HP:0002662,HP:0002798,HP:0005710,HP:0005783,HP:0005931 | An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. |
| Seizure precipitated by febrile infection | HP:0032894 | None | Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Abnormal musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| Abnormal bone ossification | HP:0011849 | None | Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| Recurrent respiratory infections | HP:0002205 | HP:0002782,HP:0002873 | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal facial skeleton morphology | HP:0011821 | None | An abnormality of one or more of the set of bones that make up the facial skeleton. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormality of the knee | HP:0002815 | None | An abnormality of the knee joint or surrounding structures. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormal limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Tonic seizure | HP:0032792 | None | A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. |
| Neoplasm by anatomical site | HP:0011793 | None | Neoplasm categorized according to the anatomical site of origin of the neoplasm. |
| Obsessive-compulsive trait | HP:0008770 | HP:0008761 | The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Generalized-onset motor seizure | HP:0032677 | None | A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. |
| Non-convulsive status epilepticus without coma | HP:0032671 | None | A type of status epilepticus without prominent motor symptoms in the absence of coma. |
| Focal motor status epilepticus | HP:0032663 | None | Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. |
| Status epilepticus with prominent motor symptoms | HP:0032658 | None | Status epilepticus with prominent motor signs during the prolonged seizure. |
| 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. |
| Cyanotic episode | HP:0200048 | None | None |
| Painless fractures due to injury | HP:0002661 | None | An increased tendency to fractures following trauma, with fractures occurring without pain. |
| Wormian bones | HP:0002645 | None | The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. |
| Abnormal pelvic girdle bone morphology | HP:0002644 | None | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| Vasculitis | HP:0002633 | None | Inflammation of blood vessel. |
| Ocular pain | HP:0200026 | None | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. |
| Mandibular pain | HP:0200025 | None | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. |
| Abnormality of the vasculature | HP:0002597 | None | An abnormality of the vasculature. |
| Abnormal cerebral cortex morphology | HP:0002538 | None | Any structural abnormality of the cerebral cortex. |
| Abnormal corneal epithelium morphology | HP:0011495 | None | Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. |
| Facial tics | HP:0011468 | None | Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| 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. |
| Global brain atrophy | HP:0002283 | HP:0002369,HP:0002462 | Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. |
| Nail dystrophy | HP:0008404 | HP:0008382,HP:0008397,HP:0008408 | Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. |
| Abnormal facial expression | HP:0005346 | None | None |
| Dystrophic fingernails | HP:0008391 | None | The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. |
| Abnormal toenail morphology | HP:0008388 | None | An anomaly of the toenail. |
| Generalized abnormality of skin | HP:0011354 | None | An abnormality of the skin that is not localized to any one particular region. |
| Localized skin lesion | HP:0011355 | None | A lesion of the skin that is located in a specific region rather than being generalized. |
| Regional abnormality of skin | HP:0011356 | None | An abnormality of the skin that is restricted to a particular body region. |
| Gait ataxia | HP:0002066 | HP:0002379 | A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. |
| Abnormality of cranial sutures | HP:0011329 | None | Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. |
| Focal aware seizure | HP:0002349 | None | A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. |
| Action tremor | HP:0002345 | None | A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. |
| Disturbance of facial expression | HP:0005324 | None | An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. |
| Incoordination | HP:0002311 | HP:0002276 | None |
| Drooling | HP:0002307 | None | Habitual flow of saliva out of the mouth. |
| Abnormal immune system morphology | HP:0032251 | None | None |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Vascular skin abnormality | HP:0011276 | None | None |
| Clonic seizure | HP:0020221 | None | A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. |
| Visually-induced seizure | HP:0020216 | None | Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. |
| Motor seizure | HP:0020219 | None | A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. |
| Poor motor coordination | HP:0002275 | None | None |
| Abnormality of the autonomic nervous system | HP:0002270 | None | An abnormality of the autonomic nervous system. |
| Reflex seizure | HP:0020207 | None | Seizures precipitated by exogenous stimuli. |
| Focal clonic seizure | HP:0002266 | None | A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. |
| Unusual infection | HP:0032101 | None | A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. |
| Erythromelalgia | HP:0032147 | None | Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. |
| Abnormal peripheral nervous system physiology | HP:0032120 | None | Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. |
| Interictal epileptiform activity | HP:0011182 | None | Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. |
| Complex febrile seizure | HP:0011172 | None | A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. |
| Generalized clonic seizure | HP:0011169 | None | Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. |
| Focal motor seizure | HP:0011153 | None | A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. |
| Atypical absence status epilepticus | HP:0011151 | None | Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. |
| Dialeptic seizure | HP:0011146 | None | A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. |
| Abnormal skin adnexa morphology | HP:0011138 | None | An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. |
| Abnormality of skin physiology | HP:0011122 | None | Any abnormality of the physiological function of the skin. |
| Abnormality of the ocular adnexa | HP:0032039 | None | An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Pes valgus | HP:0008081 | None | An outward deviation of the foot at the talocalcaneal or subtalar joint. |
| Abnormal lung morphology | HP:0002088 | None | Any structural anomaly of the lung. |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Bradykinesia | HP:0002067 | None | 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). |
| Rigidity | HP:0002063 | None | Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| 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. |
| Abnormality of the vasculature of the eye | HP:0008047 | None | None |
| Hypothermia | HP:0002045 | None | Reduced body temperature due to failed thermoregulation. |
| Diarrhea | HP:0002014 | None | Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. |
| Decreased corneal reflex | HP:0008000 | None | An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. |