Human Phenotype Ontology

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

Gene: PANK2

Cytoband position: 20p13

OMIM: 606157

RVIS score: -0.23

RVIS percentage: 37.11

Phenotype name	HPO ID	Alternative HPO ID	Phenotype description
Functional abnormality of the bladder	HP:0000009	HP:0008731	Dysfunction of the urinary bladder.
Abnormality of the bladder	HP:0000014	None	An abnormality of the urinary bladder.
Abnormality of the voice	HP:0001608	None	None
Autosomal recessive inheritance	HP:0000007	HP:0001526	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).
Urinary incontinence	HP:0000020	HP:0008681	Loss of the ability to control the urinary bladder leading to involuntary urination.
Abnormality of the urinary system	HP:0000079	None	An abnormality of the urinary system.
Abnormality of the genitourinary system	HP:0000119	HP:0008713	The presence of any abnormality of the genitourinary system.
Abnormality of head or neck	HP:0000152	None	An abnormality of head and neck.
Abnormality of the mouth	HP:0000153	None	An abnormality of the mouth.
Abnormality of the tongue	HP:0000157	None	Any abnormality of the tongue.
Abnormal oral cavity morphology	HP:0000163	None	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
Abnormality of the head	HP:0000234	None	An abnormality of the head.
Abnormality of the face	HP:0000271	None	An abnormality of the face.
Facial grimacing	HP:0000273	None	None
Mask-like facies	HP:0000298	None	A lack of facial expression often with staring eyes and a slightly open mouth.
Abnormality of the orbital region	HP:0000315	HP:0000284	None
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.
Abnormality of the eye	HP:0000478	None	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Abnormal retinal morphology	HP:0000479	HP:0007938	A structural abnormality of the retina.
Retinopathy	HP:0000488	None	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Abnormality of vision	HP:0000504	None	Abnormality of eyesight (visual perception).
Visual impairment	HP:0000505	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.
Obsessive-compulsive behavior	HP:0000722	None	Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Short attention span	HP:0000736	None	Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
Irritability	HP:0000737	None	A proneness to anger, i.e., a condition of being easily bothered or annoyed.
Diminished motivation	HP:0000745	None	A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.
Hyperactivity	HP:0000752	HP:0008764	Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
Abnormality of the skeletal system	HP:0000924	None	An abnormality of the skeletal system.
Abnormality of the skin	HP:0000951	HP:0007580	An abnormality of the skin.
Hyperpigmentation of the skin	HP:0000953	HP:0007527	A darkening of the skin related to an increase in melanin production and deposition.
Abnormality of skin pigmentation	HP:0001000	HP:0200045	An abnormality of the pigmentation of the skin.
Abnormal fundus morphology	HP:0001098	None	Any structural abnormality of the fundus of the eye.
Seizure	HP:0001250	HP:0010520	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Ataxia	HP:0001251	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).
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.
Dysarthria	HP:0001260	HP:0002327	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Global developmental delay	HP:0001263	HP:0007342	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.
Choreoathetosis	HP:0001266	HP:0007337	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Mental deterioration	HP:0001268	HP:0007298	Loss of previously present mental abilities, generally in adults.
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.
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.
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.
Dystonia	HP:0001332	HP:0002328	An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Tremor	HP:0001337	HP:0001309	An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia	HP:0001347	HP:0007318	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Growth abnormality	HP:0001507	HP:0008904	None
Dysphonia	HP:0001618	None	An impairment in the ability to produce voice sounds.
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.
Tics	HP:0100033	None	Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.
Motor tics	HP:0100034	None	Movement-based tics affecting discrete muscle groups.
Abnormal foot morphology	HP:0001760	HP:0010611	An abnormality of the skeleton of foot.
Weight loss	HP:0001824	None	Reduction of total body weight.
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).
Abnormality of the respiratory system	HP:0002086	None	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Abnormal lung morphology	HP:0002088	None	Any structural anomaly of the lung.
Pneumonia	HP:0002090	None	Inflammation of any part of the lung parenchyma.
Abnormality of the basal ganglia	HP:0002134	HP:0007257	Abnormality of the basal ganglia.
Neurological speech impairment	HP:0002167	None	None
Neurodegeneration	HP:0002180	None	Progressive loss of neural cells and tissue.
Apraxia	HP:0002186	None	A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Cognitive impairment	HP:0100543	HP:0007211	Abnormal cognition with deficits in thinking, reasoning, or remembering.
Global brain atrophy	HP:0002283	HP:0002462	Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
Akinesia	HP:0002304	None	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Orofacial dyskinesia	HP:0002310	None	None
Incoordination	HP:0002311	HP:0002276	None
Clumsiness	HP:0002312	None	Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
Dyskinesia	HP:0100660	None	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Frequent falls	HP:0002359	None	None
Diminished movement	HP:0002374	None	None
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; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.
Limb dystonia	HP:0002451	None	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Abnormal globus pallidus morphology	HP:0002453	HP:0007040	An abnormality of the globus pallidus.
Eye of the tiger anomaly of globus pallidus	HP:0002454	None	The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.
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.
Abnormal posturing	HP:0002533	None	Involuntary flexion or extension of the arms and legs.
Inability to walk	HP:0002540	None	Incapability to ambulate.
Abnormal emotion/affect behavior	HP:0100851	None	An abnormality of emotional behaviour.
Increased susceptibility to fractures	HP:0002659	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.
Abnormality of the immune system	HP:0002715	HP:0010986	An abnormality of the immune system.
Abnormal respiratory system physiology	HP:0002795	None	None
Abnormality of the lower limb	HP:0002814	None	An abnormality of the leg.
Aplasia/Hypoplasia involving the central nervous system	HP:0002977	HP:0001323	Absence or underdevelopment of tissue in the central nervous system.
Abnormality of coordination	HP:0011443	None	None
Muscle stiffness	HP:0003552	HP:0009014	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Decreased LDL cholesterol concentration	HP:0003563	None	An decreased concentration of low-density lipoprotein cholesterol in the blood.
Juvenile onset	HP:0003621	HP:0003670	Onset of signs or symptoms of disease between the age of 5 and 15 years.
Onset	HP:0003674	HP:0011007	The age group in which disease manifestations appear.
Rapidly progressive	HP:0003678	None	Applies to a disease manifestation that quickly increases in scope or severity over the course of time.
Pace of progression	HP:0003679	None	None
Abnormal muscle tone	HP:0003808	None	None
Functional motor deficit	HP:0004302	None	None
Involuntary movements	HP:0004305	HP:0007120	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Abnormality of body weight	HP:0004323	HP:0010718	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
Decreased body weight	HP:0004325	HP:0001826	Abnormally low body weight.
Abnormal posterior eye segment morphology	HP:0004329	None	None
Focal dystonia	HP:0004373	HP:0007140	A type of dystonia that is localized to a specific part of the body.
Poikilocytosis	HP:0004447	None	The presence of abnormally shaped erythrocytes.
Abnormal facial expression	HP:0005346	None	None
Abnormal aggressive, impulsive or violent behavior	HP:0006919	None	None
Pallidal degeneration	HP:0007132	None	Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.
Abnormal pyramidal sign	HP:0007256	HP:0007347	Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Abnormality of limbs	HP:0040064	None	None
Cerebral degeneration	HP:0007313	HP:0006874	None
Toe walking	HP:0040083	None	None
Generalized dystonia	HP:0007325	None	A type of dystonia that affects all or most of the body.
Atrophy/Degeneration affecting the central nervous system	HP:0007367	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.
Reduced visual acuity	HP:0007663	HP:0008008	None
Abnormality of retinal pigmentation	HP:0007703	HP:0008051	None
Abnormality of the digestive system	HP:0025031	None	None
Abnormality of digestive system physiology	HP:0025032	None	A functional anomaly of the digestive system.
Constitutional symptom	HP:0025142	None	A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
Violent behavior	HP:0008760	None	None
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.
Feeding difficulties in infancy	HP:0008872	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 esophagus physiology	HP:0025270	None	Any physiological abnormality of the esophagus.
Abnormality of the lower urinary tract	HP:0010936	None	An abnormality of the lower urinary tract.
Abnormality of immune system physiology	HP:0010978	None	A functional abnormality of the immune system.
Abnormality of lipoprotein cholesterol concentration	HP:0010979	None	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.
Hypolipoproteinemia	HP:0010981	None	An abnormal decrease in the level of lipoprotein cholesterol in the blood.
Abnormality of the cerebral subcortex	HP:0010993	None	An abnormality of the cerebral subcortex.
Abnormality of the gastrointestinal tract	HP:0011024	None	An abnormality of the gastrointestinal tract.
Abnormality of skin morphology	HP:0011121	None	Any morphological abnormality of the skin.
Abnormal central motor function	HP:0011442	None	An anomaly of the control or production of movement in the central nervous system.
Abnormal skeletal muscle morphology	HP:0011805	HP:0003735	A structural abnormality of a skeletal muscle.
Abnormality of musculoskeletal physiology	HP:0011843	None	An abnormality of the function of the skeletal system.
Respiratory tract infection	HP:0011947	None	An infection of the upper or lower respiratory tract.
Aspiration pneumonia	HP:0011951	None	Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper 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.
Subcortical cerebral atrophy	HP:0012157	None	Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.
Craniofacial dystonia	HP:0012179	None	A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.
Abnormal respiratory system morphology	HP:0012252	None	A structural anomaly of the respiratory system.
Abnormal eye morphology	HP:0012372	HP:0012374	A structural anomaly of the globe of the eye, or bulbus oculi.
Abnormal eye physiology	HP:0012373	None	A functional anomaly of the eye.
Abnormality of brain morphology	HP:0012443	None	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Brain atrophy	HP:0012444	None	Partial or complete wasting (loss) of brain tissue that was once present.
Tongue atrophy	HP:0012473	None	Wasting of the tongue.
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.
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.
Increased inflammatory response	HP:0012649	None	A abnormal increase in the inflammatory response to injury or infection.
Iron accumulation in brain	HP:0012675	None	An abnormal build up of iron (Fe) in brain tissue.
Functional abnormality of the gastrointestinal tract	HP:0012719	None	Abnormal functionality of the gastrointestinal tract.
Cough	HP:0012735	None	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Neurodevelopmental delay	HP:0012758	None	None
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.
Abnormality of the optic disc	HP:0012795	None	A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.
Inertia	HP:0030216	None	Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).
Abnormal tongue morphology	HP:0030809	None	Any structural anomaly of the tongue.
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.
Impaired continence	HP:0031064	None	Partial or total incontinence of bowel or bladder.
Impairment in personality functioning	HP:0031466	None	A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.
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.
Palilalia	HP:0031814	None	Repetition of one's own words or phrases.
Abnormal oral morphology	HP:0031816	None	Any structural 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).
Abnormal eyelid physiology	HP:0031879	None	Any functional abnormality of the eyelid.
Abnormal LDL cholesterol concentration	HP:0031886	None	Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.
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 ocular adnexa physiology	HP:0032040	None	A functional 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 circulating metabolite concentration	HP:0032180	None	An abnormal level of an analyte measured in the blood.
Abnormal erythrocyte morphology	HP:0001877	HP:0010973	Any structural abnormality of erythrocytes (red-blood cells).
Acanthocytosis	HP:0001927	HP:0005552	Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Abnormality of the musculature	HP:0003011	HP:0040290	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Decreased facial expression	HP:0004673	None	A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.
Attention deficit hyperactivity disorder	HP:0007018	HP:0006973	Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Abnormality of higher mental function	HP:0011446	None	Cognitive, psychiatric or memory anomaly.
Oromandibular dystonia	HP:0012048	HP:0001494	A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
Abnormality of forebrain morphology	HP:0100547	None	An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.
Optic disc pallor	HP:0000543	HP:0001484	A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Retinal degeneration	HP:0000546	HP:0007893	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Retinal dystrophy	HP:0000556	HP:0007982	Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Pigmentary retinopathy	HP:0000580	HP:0008010	An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
Abnormality of the optic nerve	HP:0000587	None	Abnormality of the optic nerve.
Blindness	HP:0000618	HP:0007839	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Blepharospasm	HP:0000643	HP:0007907	A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.
Optic atrophy	HP:0000648	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.
Eyelid apraxia	HP:0000658	None	None
Pediatric onset	HP:0410280	None	Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.
Abnormality of the nervous system	HP:0000707	HP:0006987	An abnormality of the nervous system.
Behavioral abnormality	HP:0000708	HP:0002456	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Psychosis	HP:0000709	None	A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Abnormality of blood and blood-forming tissues	HP:0001871	HP:0003135	An abnormality of the hematopoietic system.
Depression	HP:0000716	None	Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Disinhibition	HP:0000734	None	A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.
Abnormality of metabolism/homeostasis	HP:0001939	HP:0004367	None
Morphological central nervous system abnormality	HP:0002011	HP:0007319	A structural abnormality of the central nervous system.
Dysphagia	HP:0002015	HP:0002569	Difficulty in swallowing.
Abnormal cerebral morphology	HP:0002060	None	Any structural abnormality of the telencephalon, which is also known as the cerebrum.
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.
Opisthotonus	HP:0002179	None	None
Abnormal circulating cholesterol concentration	HP:0003107	HP:0003464	Any deviation from the normal concentration of cholesterol in the blood circulation.
Abnormal circulating lipid concentration	HP:0003119	HP:0003611	Any deviation from the normal concentration of a lipid in the blood circulation.
Myopathy	HP:0003198	HP:0003802	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Decreased muscle mass	HP:0003199	HP:0003732	None
Abdominal symptom	HP:0011458	None	A subjective manifestation of disease localized to the abdomen.
Abnormal muscle physiology	HP:0011804	None	A functional abnormality of a skeletal muscle.
Rod-cone dystrophy	HP:0000510	HP:0008036	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Emotional lability	HP:0000712	HP:0008766	Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
Dementia	HP:0000726	HP:0007283	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Abnormality of the integument	HP:0001574	None	An abnormality of the integument, which consists of the skin and the superficial fascia.
Abnormality of extrapyramidal motor function	HP:0002071	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).
Chorea	HP:0002072	HP:0002397	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Slowly progressive	HP:0003677	HP:0003681	Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.
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.