Human Phenotype Ontology

The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.

Gene: KIF1A

Cytoband position: 2q37.3

OMIM: 601255

RVIS score: -3.67

RVIS percentage: 0.27

Phenotype name	HPO ID	Alternative HPO ID	Phenotype description
Impaired distal vibration sensation	HP:0006886	None	A decrease in the ability to perceive vibration in the distal portions of the limbs.
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.
Optic atrophy	HP:0000648	HP:0007751,HP:0007855	Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Visual impairment	HP:0000505	HP:0000516,HP:0000566,HP:0007758,HP:0007860,HP:0007983	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Peripheral edema	HP:0012398	None	An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.
Abnormal pinna morphology	HP:0000377	HP:0000390,HP:0000398,HP:0004465,HP:0008562,HP:0008566,HP:0008567,HP:0008572,HP:0008580,HP:0008582,HP:0008594,HP:0008602,HP:0040111	An abnormality of the pinna, which is also referred to as the auricle or external ear.
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.
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.
Spastic paraparetic gait	HP:0031958	None	A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.
EEG with generalized epileptiform discharges	HP:0011198	HP:0010842	EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
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).
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.
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.
Reduced consciousness	HP:0004372	None	Abnormally diminished level of attention, responsiveness, or wakefulness.
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.
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.
Decreased head circumference	HP:0040195	None	An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.
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.
Hypsarrhythmia	HP:0002521	None	Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
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.
Porencephalic cyst	HP:0002132	None	A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Epileptic spasm	HP:0011097	None	A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages
Progressive spastic paraplegia	HP:0007020	HP:0006875,HP:0007255	None
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.
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
Absent speech	HP:0001344	HP:0001617,HP:0006798	Complete lack of development of speech and language abilities.
Osteolytic defects of the phalanges of the hand	HP:0009771	HP:0001179	Dissolution or degeneration of bone tissue of the phalanges of the hand.
Hypoesthesia	HP:0033748	None	Decreased ability to perceive touch.
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 optic disc morphology	HP:0012795	None	A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.
Abnormal eyelid morphology	HP:0000492	HP:0000285	An abnormality of the eyelids.
Facial edema	HP:0000282	None	None
Abnormality of the face	HP:0000271	None	An abnormality of the face.
Decreased sensory nerve conduction velocity	HP:0003448	HP:0006914	Reduced speed of conduction of the action potential along a sensory nerve.
Diffuse cerebellar atrophy	HP:0100275	HP:0006928	Diffuse unlocalised atrophy affecting the cerebellum.
Distal muscle weakness	HP:0002460	HP:0002598,HP:0002935,HP:0003497,HP:0006940,HP:0009008	Reduced strength of the musculature of the distal extremities.
Delayed speech and language development	HP:0000750	HP:0002116,HP:0002117,HP:0002336,HP:0002399,HP:0002498,HP:0006936,HP:0007004,HP:0007127,HP:0007170,HP:0007172	A degree of language development that is significantly below the norm for a child of a specified age.
Impaired distal proprioception	HP:0006858	HP:0007056,HP:0007148	A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
Peripheral axonal degeneration	HP:0000764	HP:0006787,HP:0006876,HP:0007304	Progressive deterioration of peripheral axons.
Anhidrosis	HP:0000970	None	Inability to sweat.
Pace of progression	HP:0003679	None	None
All	HP:0000001	None	None
Abnormality of the nail	HP:0001597	None	Abnormality of the nail.
Abnormal respiratory system physiology	HP:0002795	HP:0005952	None
Abnormality of the musculature of the limbs	HP:0009127	None	None
Abnormal skin morphology	HP:0011121	None	Any morphological abnormality of the skin.
Global developmental delay	HP:0001263	HP:0000754,HP:0001255,HP:0001277,HP:0001292,HP:0002433,HP:0002473,HP:0002532,HP:0006793,HP:0006867,HP:0006885,HP:0006935,HP:0007005,HP:0007094,HP:0007106,HP:0007174,HP:0007224,HP:0007228,HP:0007342,HP:0025356	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
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.
Hand muscle atrophy	HP:0009130	HP:0006967,HP:0008934,HP:0008951,HP:0009038	Muscular atrophy involving the muscles of the hand.
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).
Edema	HP:0000969	HP:0000990	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hyperhidrosis	HP:0000975	HP:0001011,HP:0001064,HP:0007424	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
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.
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.
Hyperreflexia	HP:0001347	HP:0001282,HP:0006820,HP:0007184,HP:0007318	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
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).
Severe muscular hypotonia	HP:0006829	HP:0002347	A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
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.
Cerebellar atrophy	HP:0001272	HP:0002364,HP:0006839,HP:0007072,HP:0007203	Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Impaired vibratory sensation	HP:0002495	HP:0006836,HP:0007116	A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Cerebral cortical atrophy	HP:0002120	HP:0006823,HP:0006835	Atrophy of the cortex of the cerebrum.
Cerebellar vermis atrophy	HP:0006855	HP:0007121,HP:0007312	Wasting (atrophy) of the vermis of cerebellum.
Distal amyotrophy	HP:0003693	HP:0002484,HP:0002934,HP:0003486,HP:0003699,HP:0006786,HP:0006864,HP:0008937,HP:0008958,HP:0009015,HP:0009040,HP:0009065	Muscular atrophy affecting muscles in the distal portions of the extremities.
Abnormality of eye movement	HP:0000496	HP:0006860	An abnormality in voluntary or involuntary eye movements or their control.
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.
Neurodevelopmental delay	HP:0012758	None	Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
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.
Abnormal skeletal muscle morphology	HP:0011805	HP:0003735	A structural abnormality of a skeletal muscle.
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 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
Limb muscle weakness	HP:0003690	HP:0002534	Reduced strength and weakness of the muscles of the arms and legs.
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.
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.
Nystagmus	HP:0000639	None	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Palpebral edema	HP:0100540	HP:0000626	Edema in the region of the eyelids.
Epicanthus	HP:0000286	HP:0000624,HP:0007930	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
Abnormality of the periorbital region	HP:0000606	None	An abnormality of the region situated around the orbit of the eye.
Abnormal saccadic eye movements	HP:0000570	HP:0000604	An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
Abnormality of the ear	HP:0000598	None	An abnormality of the ear.
Cerebral visual impairment	HP:0100704	HP:0000595	A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
Abnormal optic nerve morphology	HP:0000587	None	Abnormality of the optic nerve.
Abnormal involuntary eye movements	HP:0012547	None	Anomalous movements of the eyes that occur without the subject wanting them to happen.
Visual loss	HP:0000572	None	Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Muscle stiffness	HP:0003552	HP:0009014	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Abnormality of connective tissue	HP:0003549	None	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
Short stature	HP:0004322	HP:0001509,HP:0003501,HP:0003507,HP:0003512,HP:0003518,HP:0003519,HP:0008871,HP:0008882,HP:0008888,HP:0008913	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Abnormality of vision	HP:0000504	None	Abnormality of eyesight (visual perception).
Infantile spasms	HP:0012469	None	Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Abnormal eye morphology	HP:0012372	HP:0000489,HP:0012374	A structural anomaly of the globe of the eye, or bulbus oculi.
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.
Babinski sign	HP:0003487	HP:0001352	Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Distal lower limb muscle weakness	HP:0009053	HP:0003485,HP:0009035	Reduced strength of the distal musculature of the legs.
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.
Upper limb amyotrophy	HP:0009129	HP:0003471	Muscular atrophy involving the muscles of the upper limbs.
Abnormality of the eye	HP:0000478	None	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Anteverted nares	HP:0000463	HP:0000427,HP:0000435,HP:0000441,HP:0004495	Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Short nose	HP:0003196	HP:0000440,HP:0000449,HP:0000450,HP:0003192,HP:0003195,HP:0005270,HP:0200092	Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Scissor gait	HP:0012407	None	A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.
Abnormal morphology of the nasal alae	HP:0000429	None	An abnormality of the Ala of nose.
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.
Macrotia	HP:0000400	HP:0000382,HP:0000386,HP:0000401,HP:0001755	Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Malar flattening	HP:0000272	HP:0000312,HP:0000332,HP:0004642,HP:0004658,HP:0004671,HP:0005319,HP:0005443,HP:0005455,HP:0100846	Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
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.
Abnormal zygomatic bone morphology	HP:0010668	HP:0012369	An abnormality of the zygomatic bone.
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).
Foot dorsiflexor weakness	HP:0009027	HP:0003377	Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Abnormality of the outer ear	HP:0000356	HP:0001752	An abnormality of the external ear.
Abnormality of the immune system	HP:0002715	HP:0003257,HP:0003346,HP:0010986	An abnormality of the immune system.
Abnormal bone structure	HP:0003330	None	Any anomaly in the composite material or the layered arrangement of the bony skeleton.
Abnormality of the orbital region	HP:0000315	HP:0000284	None
Abnormal midface morphology	HP:0000309	HP:0430026	An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.
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.
Full cheeks	HP:0000293	HP:0002262,HP:0004427	Increased prominence or roundness of soft tissues between zygomata and mandible.
Abnormal respiratory system morphology	HP:0012252	None	A structural anomaly of the respiratory system.
Microcephaly	HP:0000252	HP:0001366,HP:0005485,HP:0005489,HP:0005497	Head circumference below 2 standard deviations below the mean for age and gender.
Abnormality of skull size	HP:0000240	None	Any abnormality of the size of the skull.
Hydrocephalus	HP:0000238	HP:0007189,HP:0008503	Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
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.
Gingival overgrowth	HP:0000212	HP:0000195	Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
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 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.
Open mouth	HP:0000194	None	A facial appearance characterized by a permanently or nearly permanently opened mouth.
Abnormal upper lip morphology	HP:0000177	None	An abnormality of the upper lip.
Abnormal palate morphology	HP:0000174	None	Any abnormality of the palate, i.e., of roof of the mouth.
Abnormality of the gingiva	HP:0000168	None	Any abnormality of the gingiva (also known as gums).
Abnormal oral cavity morphology	HP:0000163	None	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
Abnormal lip morphology	HP:0000159	None	An abnormality of the lip.
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
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.
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.
Muscle weakness	HP:0001324	HP:0002309,HP:0008979,HP:0009012,HP:0009061	Reduced strength of muscles.
Lower limb muscle weakness	HP:0007340	HP:0002065,HP:0002477,HP:0009047	Weakness of the muscles of the legs.
Abnormality of the ankle	HP:0003028	None	An anomaly of the joint that connects the foot with the leg.
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.
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).
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.
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.
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.
Abnormality of body height	HP:0000002	None	Deviation from the norm of height with respect to that which is expected according to age and gender norms.
Abnormality of the periungual region	HP:0100803	None	An abnormality of the region around the nails of the fingers or toes.
Abnormal long bone morphology	HP:0011314	HP:0100713,HP:0100714,HP:0100715	An abnormality of size or shape of the long bones.
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 external nose morphology	HP:0010938	None	An abnormality of the external nose.
Abnormality of the lower urinary tract	HP:0010936	None	An abnormality of the lower urinary tract.
Abnormality of metabolism/homeostasis	HP:0001939	HP:0002146,HP:0004355,HP:0004367	None
Abnormal oral morphology	HP:0031816	None	Any structural anomaly of the mouth, which is also known as the oral cavity.
Abnormal oral physiology	HP:0031815	None	A functional anomaly of the mouth (which is also known as the oral cavity).
Abnormal superficial reflex	HP:0031828	None	An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.
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).
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.
Intellectual disability, severe	HP:0010864	HP:0007196	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
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.
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.
Periorbital edema	HP:0100539	None	Edema affecting the region situated around the orbit of the eye.
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.
Abnormal ear morphology	HP:0031703	None	Any structural anomaly of the ear.
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.
Osteolysis	HP:0002797	HP:0010737	Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
Pedal edema	HP:0010741	None	An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
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.
Abnormality of lower limb joint	HP:0100491	HP:0100239	None
Abnormal toe morphology	HP:0001780	None	An anomaly of a toe.
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.
Abnormal ankle physiology	HP:0034674	None	A functional anomaly of the ankle.
Abnormal curvature of the vertebral column	HP:0010674	None	The presence of an abnormal curvature of the vertebral column.
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.
Hypohidrosis or hyperhidrosis	HP:0007550	None	None
Growth delay	HP:0001510	HP:0001434,HP:0001512,HP:0001514,HP:0001517,HP:0001532,HP:0008847,HP:0008870,HP:0008886,HP:0008893,HP:0008926	A deficiency or slowing down of growth pre- and postnatally.
Growth abnormality	HP:0001507	HP:0008904	None
Abnormal cheek morphology	HP:0004426	None	An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface
Biparietal narrowing	HP:0004422	None	A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).
Abnormal communication	HP:0034434	None	Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.
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 the musculature of the upper limbs	HP:0001446	None	None
Abnormality of the musculature of the lower limbs	HP:0001437	None	None
Abnormality of the musculature of the hand	HP:0001421	None	None
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.
Abnormal posterior eye segment morphology	HP:0004329	None	None
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
Atrophy/Degeneration affecting the brainstem	HP:0007366	None	None
Aplasia/Hypoplasia of the cerebrum	HP:0007364	None	None
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.
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.
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.
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.
Abnormal cerebellum morphology	HP:0001317	None	Any structural abnormality of the cerebellum.
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.
Dysmetria	HP:0001310	None	A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Involuntary movements	HP:0004305	HP:0007120	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
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.
Lower limb hyperreflexia	HP:0002395	HP:0007245,HP:0007288	None
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).
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.
Spastic paraplegia	HP:0001258	HP:0007062,HP:0007124,HP:0007216	Spasticity and weakness of the leg and hip muscles.
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.
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).
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.
Sensorimotor neuropathy	HP:0007141	HP:0007055,HP:0007237	None
Abnormal fingernail morphology	HP:0001231	None	An abnormality of the fingernails.
Lower limb amyotrophy	HP:0007210	None	Muscular atrophy affecting the lower limb.
Autoamputation	HP:0001218	None	Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.
Midface retrusion	HP:0011800	HP:0040199	Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Abnormal sensory nerve conduction velocity	HP:0040132	None	None
Abnormal nerve conduction velocity	HP:0040129	None	None
Osteolytic defects of the phalanges of the toes	HP:0010177	None	None
Abnormal toe phalanx morphology	HP:0010161	None	None
Abnormality of the hand	HP:0001155	HP:0005858	An abnormality affecting one or both hands.
Distal upper limb amyotrophy	HP:0007149	None	Muscular atrophy of distal arm muscles.
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
Ventriculomegaly	HP:0002119	HP:0002447,HP:0005691,HP:0007071	An increase in size of the ventricular system of the brain.
Abnormality of digestive system physiology	HP:0025032	None	A functional anomaly of the digestive system.
Abnormality of the digestive system	HP:0025031	None	None
Abnormal fundus morphology	HP:0001098	None	Any structural abnormality of the fundus of the eye.
Episodic hyperhidrosis	HP:0001069	None	Intermittent episodes of abnormally increased perspiration.
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.
Leg muscle stiffness	HP:0008969	None	None
Recurrent infections	HP:0002719	HP:0002957,HP:0002964,HP:0005405	Increased susceptibility to infections.
Intrinsic hand muscle atrophy	HP:0008954	None	Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.
Axial hypotonia	HP:0008936	HP:0002320	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
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.
Abnormal cerebrospinal fluid morphology	HP:0002921	None	An abnormality of the cerebrospinal fluid (CSF).
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.
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 oral mucosa morphology	HP:0011830	None	Abnormality of the oral mucosa.
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.
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 facial soft tissue	HP:0011799	None	None
Abnormality of joint mobility	HP:0011729	None	An abnormality in the range and ease of motion of joints across their normal range.
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 calvaria morphology	HP:0002683	HP:0002648	Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.
Painless fractures due to injury	HP:0002661	None	An increased tendency to fractures following trauma, with fractures occurring without pain.
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.
Ankle clonus	HP:0011448	HP:0002541	Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Inability to walk	HP:0002540	None	Incapability to ambulate.
Abnormal cerebral cortex morphology	HP:0002538	None	Any structural abnormality of the cerebral cortex.
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.
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.
Language impairment	HP:0002463	None	Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
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.
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.
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.
Abnormality of mouth shape	HP:0011338	None	An abnormality of the outline, configuration, or contour of the mouth.
Abnormal brainstem morphology	HP:0002363	None	An anomaly of the brainstem.
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.
Abnormal cerebellar vermis morphology	HP:0002334	None	An anomaly of the vermis of cerebellum.
Drowsiness	HP:0002329	None	Abnormal feeling of sleepiness or difficulty staying awake.
Unsteady gait	HP:0002317	None	None
Abnormal nostril morphology	HP:0005288	None	Abnormality of the nostril.
Abnormal digit morphology	HP:0011297	None	A morphological abnormality of a digit, i.e., of a finger or toe.
Abnormal metencephalon morphology	HP:0011283	None	An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.
Abnormal hindbrain morphology	HP:0011282	None	An abnormality of the hindbrain, also known as the rhombencephalon.
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.
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.
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.
Clonus	HP:0002169	None	A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Abnormality of speech or vocalization	HP:0002167	None	Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
Abnormal cerebral ventricle morphology	HP:0002118	None	Any structural abnormality of the cerebral ventricles.
Abnormal nasal morphology	HP:0005105	None	None
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.
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.
Spastic gait	HP:0002064	None	Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
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.
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.