Human Phenotype Ontology

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

Gene: GNAO1

Cytoband position: 16q13

OMIM: 139311

RVIS score: -0.74

RVIS percentage: 13.94

Phenotype name	HPO ID	Alternative HPO ID	Phenotype description
Abnormality of the urinary system	HP:0000079	None	An abnormality of the urinary system.
Renal dysplasia	HP:0000110	HP:0004721	The presence of developmental dysplasia of the kidney.
Abnormality of male external genitalia	HP:0000032	None	An abnormality of male external genitalia.
Abnormality of the genital system	HP:0000078	None	An abnormality of the genital system.
Abnormality of the genitourinary system	HP:0000119	HP:0008713	The presence of any abnormality of the genitourinary system.
Autosomal dominant inheritance	HP:0000006	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.
Tonic seizure	HP:0032792	None	A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
Abnormal penis morphology	HP:0000036	None	Abnormality of the male external sex organ.
Hypoplastic male external genitalia	HP:0000050	HP:0008721	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
Micropenis	HP:0000054	HP:0000038	Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Abnormality of the ureter	HP:0000069	HP:0006001	An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
Abnormality of the kidney	HP:0000077	None	An abnormality of the kidney.
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.
Abnormal palate morphology	HP:0000174	None	Any abnormality of the palate, i.e., of roof of the mouth.
Cleft palate	HP:0000175	HP:0410004	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Abnormality of the head	HP:0000234	None	An abnormality of the head.
Abnormality of skull size	HP:0000240	None	Any abnormality of the size of the skull.
Microcephaly	HP:0000252	HP:0005497	Head circumference below 2 standard deviations below the mean for age and gender.
Abnormality of the face	HP:0000271	None	An abnormality of the face.
Abnormality of the forehead	HP:0000290	None	An anomaly of the forehead.
Sloping forehead	HP:0000340	HP:0008500	Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
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 nose	HP:0000366	None	An abnormality of the nose.
Abnormal nasal bridge morphology	HP:0000422	HP:0000423	Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.
Abnormality of the nasal alae	HP:0000429	None	An abnormality of the Ala of nose.
Anteverted nares	HP:0000463	HP:0000441	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).
Abnormality of the eye	HP:0000478	None	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Strabismus	HP:0000486	HP:0000487	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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 eye movement	HP:0000496	HP:0006860	An abnormality in voluntary or involuntary eye movements or their control.
Abnormal conjugate eye movement	HP:0000549	None	Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
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.
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.
Delayed speech and language development	HP:0000750	HP:0007172	A degree of language development that is significantly below the norm for a child of a specified age.
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.
Abnormal external genitalia	HP:0000811	None	None
Abnormality of the endocrine system	HP:0000818	None	An abnormality of the endocrine system.
Precocious puberty	HP:0000826	None	The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
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.
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.
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.
Abnormal corpus callosum morphology	HP:0001273	HP:0007323	Abnormality of the corpus callosum.
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.
Generalized hypotonia	HP:0001290	None	Generalized muscular hypotonia (abnormally low muscle tone).
Encephalopathy	HP:0001298	None	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Pachygyria	HP:0001302	None	Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Abnormal nervous system electrophysiology	HP:0001311	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.
Abnormal cerebellum morphology	HP:0001317	None	Any structural abnormality of the cerebellum.
Muscle weakness	HP:0001324	HP:0009061	Reduced strength of muscles.
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.
Myoclonus	HP:0001336	HP:0007087	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Tremor	HP:0001337	HP:0001309	An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Lissencephaly	HP:0001339	HP:0002537	A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Absent speech	HP:0001344	HP:0006798	Complete lack of development of speech and language abilities.
Broad finger	HP:0001500	HP:0001497	Increased width of a non-thumb digit of the hand.
Growth abnormality	HP:0001507	HP:0008904	None
Failure to thrive	HP:0001508	HP:0008916	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Umbilical hernia	HP:0001537	None	Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Abnormal umbilicus morphology	HP:0001551	None	An abnormality of the structure or appearance of the umbilicus.
Abnormality of the integument	HP:0001574	None	An abnormality of the integument, which consists of the skin and the superficial fascia.
Abnormality of the nail	HP:0001597	None	Abnormality of the nail.
Abnormality of the cardiovascular system	HP:0001626	None	Any abnormality of the cardiovascular system.
Abnormal heart morphology	HP:0001627	HP:3000001	Any structural anomaly of the heart.
Ventricular septal defect	HP:0001629	HP:0001652	A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Hypoplasia of penis	HP:0008736	HP:0008632	None
Abnormal cardiac ventricle morphology	HP:0001713	None	An abnormality of a cardiac ventricle.
Abnormal foot morphology	HP:0001760	HP:0010611	An abnormality of the skeleton of foot.
Abnormality of toe	HP:0001780	None	An anomaly of a toe.
Anonychia	HP:0001798	HP:0008384	Aplasia of the nail.
Absent fingernail	HP:0001817	None	Absence of a fingernail.
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.
Cerebral atrophy	HP:0002059	HP:0006890	Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Abnormal cerebral morphology	HP:0002060	None	Any structural abnormality of the telencephalon, which is also known as the cerebrum.
Bilateral tonic-clonic seizure	HP:0002069	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.
Hypoplasia of the corpus callosum	HP:0002079	HP:0007026	Underdevelopment of the corpus callosum.
Abnormal cerebral ventricle morphology	HP:0002118	None	Any structural abnormality of the cerebral ventricles.
Ventriculomegaly	HP:0002119	HP:0007071	An increase in size of the ventricular system of the brain.
Generalized non-motor (absence) seizure	HP:0002121	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 characterised 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.
Episodic ataxia	HP:0002131	HP:0007214	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
Neurological speech impairment	HP:0002167	None	None
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.
Abnormality of neuronal migration	HP:0002269	HP:0007317	An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
Orofacial dyskinesia	HP:0002310	None	None
EEG abnormality	HP:0002353	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.
Dyskinesia	HP:0100660	None	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Sleep disturbance	HP:0002360	None	An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Febrile seizure (within the age range of 3 months to 6 years)	HP:0002373	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.
Developmental regression	HP:0002376	HP:0007247	Loss of developmental skills, as manifested by loss of developmental milestones.
Self-injurious behavior	HP:0100716	None	Aggression towards oneself.
Poor head control	HP:0002421	None	Difficulty to maintain correct position of the head while standing or sitting.
Abnormal hard palate morphology	HP:0100737	None	None
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.
Hernia	HP:0100790	None	None
Hyperkinetic movements	HP:0002487	None	Motor hyperactivity with excessive movement of muscles of the body as a whole.
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 cerebral white matter morphology	HP:0002500	HP:0200100	An abnormality of the cerebral white matter.
Abnormality of the upper limb	HP:0002817	HP:0003838	An abnormality of the arm.
Aplasia/Hypoplasia involving the central nervous system	HP:0002977	HP:0001323	Absence or underdevelopment of tissue in the central nervous system.
Abnormality of the musculature	HP:0003011	HP:0040290	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
External genital hypoplasia	HP:0003241	HP:0003245	Underdevelopment of part or all of the external reproductive organs.
Abnormality of connective tissue	HP:0003549	None	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
Abnormal muscle tone	HP:0003808	None	None
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.
Clonic seizure	HP:0020221	None	A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
Abnormality of the abdominal wall	HP:0004298	HP:0001462	The presence of any abnormality affecting the abdominal wall.
Hernia of the abdominal wall	HP:0004299	None	The presence of a hernia in the abdominal wall.
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 nasal morphology	HP:0005105	None	None
Depressed nasal bridge	HP:0005280	HP:0005284	Posterior positioning of the nasal root in relation to the overall facial profile for age.
Abnormality of the nares	HP:0005288	None	Abnormality of the nostril.
Broad long bones	HP:0005622	None	Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.
Abnormal hand morphology	HP:0005922	HP:0003098	Any structural anomaly of the hand.
Aplasia/hypoplasia involving bones of the hand	HP:0005927	None	Absence (due to failure to form) or underdevelopment of the bones of the hand.
Broad phalanx	HP:0006009	HP:0006249	Increased side-to-side width of one or more phalanges of the fingers or toes.
Aplasia/Hypoplasia of fingers	HP:0006265	None	Small/hypoplastic or absent/aplastic fingers.
Abnormal aggressive, impulsive or violent behavior	HP:0006919	None	None
Diffuse white matter abnormalities	HP:0007204	None	None
Abnormality of limbs	HP:0040064	None	None
Abnormality of limb bone	HP:0040068	None	None
Abnormal lower limb bone morphology	HP:0040069	HP:0040066	None
Aplasia/Hypoplasia of the cerebrum	HP:0007364	None	None
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.
Aplasia/Hypoplasia of the corpus callosum	HP:0007370	HP:0007137	Absence or underdevelopment of the corpus callosum.
Puberty and gonadal disorders	HP:0008373	HP:0000827	None
Aplasia/Hypoplasia of the nails	HP:0008386	HP:0008385	Aplasia or developmental hypoplasia of the nail.
Abnormality of the digestive system	HP:0025031	None	None
Abnormality of digestive system physiology	HP:0025032	None	A functional anomaly of the digestive system.
Abnormal ureter morphology	HP:0025633	None	A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
Short finger	HP:0009381	HP:0006015	Abnormally short finger associated with developmental hypoplasia.
Aplasia/hypoplasia of the extremities	HP:0009815	HP:0006497	Absence (due to failure to form) or underdevelopment of the extremities.
Broad phalanx of the toes	HP:0010174	None	Increased width of phalanx of one or more toes.
Abnormal ventricular septum morphology	HP:0010438	HP:0001628	A structural abnormality of the interventricular septum.
Abnormality of the male genitalia	HP:0010461	None	Abnormality of the male genital system.
Generalized tonic seizure	HP:0010818	HP:0002184	A generalized tonic seizure is a type of generalized motor seizure characterised 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.
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).
EEG with burst suppression	HP:0010851	None	The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.
Abdominal wall defect	HP:0010866	None	An incomplete closure of the abdominal wall.
Abnormality of the upper urinary tract	HP:0010935	None	An abnormality of the upper urinary tract.
Abnormality of the external nose	HP:0010938	None	An abnormality of the external nose.
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.
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
Abnormality of 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.
Dialeptic seizure	HP:0011146	None	A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.
Generalized clonic seizure	HP:0011169	None	Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.
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.
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).
Uni- and bilateral multifocal epileptiform discharges	HP:0011190	None	Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.
EEG with generalized epileptiform discharges	HP:0011198	HP:0010842	EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
Abnormality of hindbrain morphology	HP:0011282	None	An abnormality of the hindbrain, also known as the rhombencephalon.
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 digit morphology	HP:0011297	None	A morphological abnormality of a digit, i.e., of a finger or toe.
Abnormality of long bone morphology	HP:0011314	HP:0100715	An abnormality of size or shape of the long bones.
Short digit	HP:0011927	None	One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.
Abnormal reproductive system morphology	HP:0012243	None	A structural or developmental anomaly of any of the tissues involved in the genital system.
Aplasia/hypoplasia involving bones of the extremities	HP:0045060	None	None
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.
Abnormal myelination	HP:0012447	None	Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
Delayed myelination	HP:0012448	None	Delayed myelination.
Absent thumbnail	HP:0012554	None	Absence of thumb nail.
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.
Functional abnormality of the gastrointestinal tract	HP:0012719	None	Abnormal functionality of the gastrointestinal tract.
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 central nervous system electrophysiology	HP:0030178	None	None
Abnormality of cardiovascular system morphology	HP:0030680	HP:0002565	Any structural anomaly of the heart and great vessels.
Abnormal oral morphology	HP:0031816	None	Any structural anomaly of the mouth, which is also known as the oral cavity.
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.
Abnormality of the skeletal system	HP:0000924	None	An abnormality of the skeletal system.
Abnormal skull morphology	HP:0000929	None	An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
Abnormal cardiac septum morphology	HP:0001671	HP:0004760	An anomaly of the intra-atrial or intraventricular septum.
Early onset of sexual maturation	HP:0100000	None	An early onset of puberty, in this case early does not refer to precocious.
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.
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.
Abnormality of the hand	HP:0001155	HP:0005858	An abnormality affecting one or both hands.
Abnormality of finger	HP:0001167	HP:0003035	An anomaly of a finger.
Intellectual disability	HP:0001249	HP:0007180	Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
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.
Abnormality of coordination	HP:0011443	None	None
Abnormal cortical gyration	HP:0002536	HP:0006900	An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
Abnormal cerebral cortex morphology	HP:0002538	None	Any structural abnormality of the cerebral cortex.
Abnormal emotion/affect behavior	HP:0100851	None	An abnormality of emotional behaviour.
Abnormality of limb bone morphology	HP:0002813	None	Any abnormality of bones of the arms or legs.
Abnormality of the lower limb	HP:0002814	None	An abnormality of the leg.
Infantile muscular hypotonia	HP:0008947	HP:0010572	Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Aplasia/hypoplasia involving the skeleton	HP:0009115	None	Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.
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.
Abnormality of the phalanges of the toes	HP:0010161	None	None
Abnormality of higher mental function	HP:0011446	None	Cognitive, psychiatric or memory anomaly.
Abnormal muscle physiology	HP:0011804	None	A functional abnormality of a skeletal muscle.
Abnormality of skeletal morphology	HP:0011842	None	An abnormality of the form, structure, or size of the skeletal system.
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 renal morphology	HP:0012210	HP:0008712	Any structural anomaly of the kidney.
Thin corpus callosum	HP:0033725	None	An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
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).
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.
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.
Diffuse cerebral atrophy	HP:0002506	HP:0006954	Diffuse unlocalised atrophy affecting the cerebrum.
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).
Epileptic encephalopathy	HP:0200134	None	A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Abnormal esophagus physiology	HP:0025270	None	Any physiological abnormality of the esophagus.
Abnormal central motor function	HP:0011442	None	An anomaly of the control or production of movement in the central nervous system.
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).
Ureterocele	HP:0000070	None	A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.
Abnormal oral cavity morphology	HP:0000163	None	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
Oral cleft	HP:0000202	None	The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
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).
Cerebellar atrophy	HP:0001272	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.
Generalized-onset seizure	HP:0002197	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.
Athetosis	HP:0002305	HP:0007316	A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Aplasia/hypoplasia involving bones of the upper limbs	HP:0006496	None	Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.
Focal-onset seizure	HP:0007359	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.
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.
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.