Human Phenotype Ontology

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

Gene: MTHFR

Cytoband position: 1p36.22

OMIM: 607093

RVIS score: 0.09

RVIS percentage: 60.71

Phenotype name	HPO ID	Alternative HPO ID	Phenotype description
Abnormality of the urinary system	HP:0000079	None	An abnormality of the urinary system.
Cleft lip	HP:0410030	None	A gap in the lip or lips.
Hydrocephalus	HP:0000238	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 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.
Increased sulfur amino acid level in urine	HP:0033095	None	An elevated level of a sulfur-containing amino acid in the urine.
Increased proteinogenic amino acid level in urine	HP:0033100	None	An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.
Abnormal circulating proteinogenic amino acid concentration	HP:0033107	None	An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.
Abnormal circulating proteinogenic amino acid derivative concentration	HP:0033108	None	Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.
Abnormality of the outer ear	HP:0000356	HP:0001752	An abnormality of the external ear.
Abnormal location of ears	HP:0000357	None	Abnormal location of the ear.
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.
Low-set ears	HP:0000369	None	Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
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.
Abnormal neural tube morphology	HP:0410043	None	Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).
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.
Brain imaging abnormality	HP:0410263	None	An anomaly of metabolism or structure of the brain identified by imaging.
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.
Negativism	HP:0410291	None	Opposing or not responding to instructions or external stimuli.
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.
Psychotic episodes	HP:0000725	None	None
Hallucinations	HP:0000738	None	Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.
Delusions	HP:0000746	None	A false belief that is held despite evidence to the contrary.
Abnormality of the diaphragm	HP:0000775	HP:0005204	Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.
Congenital diaphragmatic hernia	HP:0000776	HP:0006604	The presence of a hernia of the diaphragm present at birth.
Abnormality of the thymus	HP:0000777	None	Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
Abnormality of the endocrine system	HP:0000818	None	An abnormality of the endocrine system.
Diabetes mellitus	HP:0000819	HP:0008260	A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Abnormality of the adrenal glands	HP:0000834	None	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
Adrenal hypoplasia	HP:0000835	None	Developmental hypoplasia of the adrenal glands.
Abnormality of the skeletal system	HP:0000924	None	An abnormality of the skeletal system.
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 fundus morphology	HP:0001098	None	Any structural abnormality of the fundus of the eye.
Abnormality of prenatal development or birth	HP:0001197	None	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
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.
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).
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
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.
Hemiparesis	HP:0001269	None	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Abnormal corpus callosum morphology	HP:0001273	HP:0007323	Abnormality of the corpus callosum.
Agenesis of corpus callosum	HP:0001274	HP:0006800	Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
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.
Stroke	HP:0001297	HP:0002452	Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
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.
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.
Neonatal hypotonia	HP:0001319	HP:0008976	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Muscle weakness	HP:0001324	HP:0009061	Reduced strength of muscles.
Specific learning disability	HP:0001328	HP:0007234	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Psychotic mentation	HP:0001345	None	None
Holoprosencephaly	HP:0001360	HP:0009807	Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
Heterogeneous	HP:0001425	None	None
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.
Growth delay	HP:0001510	HP:0008926	A deficiency or slowing down of growth pre- and postnatally.
Intrauterine growth retardation	HP:0001511	HP:0008931	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Omphalocele	HP:0001539	None	A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
Abnormality of the amniotic fluid	HP:0001560	None	Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.
Polyhydramnios	HP:0001561	HP:0005098	The presence of excess amniotic fluid in the uterus during pregnancy.
Abnormality of the cardiovascular system	HP:0001626	None	Any abnormality of the cardiovascular system.
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.
Thromboembolic stroke	HP:0001727	None	A cerebrovascular accident (stroke) that occurs because of thromboembolism.
Abnormality of blood and blood-forming tissues	HP:0001871	HP:0003135	An abnormality of the hematopoietic system.
Thromboembolism	HP:0001907	None	The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
Abnormality of metabolism/homeostasis	HP:0001939	HP:0004367	None
Fever	HP:0001945	None	Body temperature elevated above the normal range.
Glucose intolerance	HP:0001952	HP:0000833	Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Abnormal thrombosis	HP:0001977	None	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Morphological central nervous system abnormality	HP:0002011	HP:0007319	A structural abnormality of the central nervous system.
Abnormal cerebral morphology	HP:0002060	None	Any structural abnormality of the telencephalon, which is also known as the cerebrum.
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 myoclonic seizure	HP:0002123	HP:0007294	A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Abnormality of the spinal cord	HP:0002143	None	An abnormality of the spinal cord (myelon).
Homocystinuria	HP:0002156	None	An increased concentration of homocystine in the urine.
Hyperhomocystinemia	HP:0002160	None	An increased concentration of homocystine in the blood.
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.
Pulmonary embolism	HP:0002204	None	An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Cognitive impairment	HP:0100543	HP:0007211	Abnormal cognition with deficits in thinking, reasoning, or remembering.
Incoordination	HP:0002311	HP:0002276	None
Spastic paraparesis	HP:0002313	HP:0007191	None
Headache	HP:0002315	HP:0001354	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Leukoencephalopathy	HP:0002352	HP:0007073	This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
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.
Abnormal cerebral vascular morphology	HP:0100659	None	An anomaly of the cerebral blood vessels.
Paraparesis	HP:0002385	None	Weakness or partial paralysis in the lower limbs.
Abnormality of the lymphatic system	HP:0100763	HP:0003012	An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
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.
Abnormal periventricular white matter morphology	HP:0002518	None	A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.
Abnormality of globe location	HP:0100886	None	An abnormality in the placement of the ocular globe (eyeball).
Abnormality of the vasculature	HP:0002597	None	An abnormality of the vasculature.
Deep venous thrombosis	HP:0002625	None	Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
Abnormality of calvarial morphology	HP:0002648	None	The presence of an abnormal shape 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.
Abnormality of the calvaria	HP:0002683	None	Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.
Prenatal maternal abnormality	HP:0002686	None	None
Hypoplastic facial bones	HP:0002692	None	None
Abnormality of the immune system	HP:0002715	HP:0010986	An abnormality of the immune system.
Abnormality of connective tissue	HP:0003549	None	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
Hypomethioninemia	HP:0003658	None	A decreased concentration of methionine in the blood.
Onset	HP:0003674	HP:0011007	The age group in which disease manifestations appear.
Limb muscle weakness	HP:0003690	HP:0002534	Reduced strength and weakness of the muscles of the arms and legs.
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.
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.
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
Abnormal circulating sulfur amino acid concentration	HP:0004339	None	Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.
Abnormal circulating carboxylic acid concentration	HP:0004354	None	Any deviation from the normal concentration of a carboxylic acid in the blood circulation.
Abnormality of temperature regulation	HP:0004370	None	An abnormality of temperature homeostasis.
Reduced consciousness/confusion	HP:0004372	None	None
Hemiplegia/hemiparesis	HP:0004374	None	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Thrombophlebitis	HP:0004418	None	Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
Recurrent thrombophlebitis	HP:0004419	None	Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
Venous thrombosis	HP:0004936	None	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
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.
Cerebral venous thrombosis	HP:0005305	None	Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.
Hypoplasia of the frontal bone	HP:0005466	HP:0005493	Underdevelopment of the frontal bone.
Atrophy of the spinal cord	HP:0006827	None	None
Social and occupational deterioration	HP:0007086	None	None
Abnormality of limbs	HP:0040064	None	None
Lower limb muscle weakness	HP:0007340	HP:0009047	Weakness of the muscles of the legs.
Atrophy/Degeneration involving the spinal cord	HP:0007344	None	None
Aplasia/Hypoplasia of the cerebellum	HP:0007360	HP:0007368	None
Aplasia/Hypoplasia of the cerebrum	HP:0007364	None	None
Atrophy/Degeneration affecting the central nervous system	HP:0007367	None	None
Aplasia/Hypoplasia of the corpus callosum	HP:0007370	HP:0007137	Absence or underdevelopment of the corpus callosum.
Abnormality of the digestive system	HP:0025031	None	None
Abnormality of digestive system physiology	HP:0025032	None	A functional anomaly of the digestive system.
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.
Spinal dysraphism	HP:0010301	None	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
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.
Anterior pituitary dysgenesis	HP:0010625	None	Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.
Anterior pituitary hypoplasia	HP:0010627	HP:0008238	Underdevelopment of the anterior pituitary gland.
Abdominal wall defect	HP:0010866	None	An incomplete closure of the abdominal wall.
Abnormal circulating aspartate family amino acid concentration	HP:0010899	None	Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.
Abnormal circulating methionine concentration	HP:0010901	None	Any deviation from the normal concentration of methionine in the blood circulation.
Abnormal circulating homocysteine concentration	HP:0010919	None	An abnormality of a homocysteine metabolic process.
Abnormality of the cerebral subcortex	HP:0010993	None	An abnormality of the cerebral subcortex.
Abnormal glucose homeostasis	HP:0011014	None	Abnormality of glucose homeostasis.
Abnormal cardiovascular system physiology	HP:0011025	None	Abnormal functionality of the cardiovascular system.
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.
Abnormal shape of the frontal region	HP:0011218	None	An abnormal shape of the frontal part of the head.
Abnormality of the urinary system physiology	HP:0011277	None	None
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 central motor function	HP:0011442	None	An anomaly of the control or production of movement in the central nervous system.
Abnormality of coordination	HP:0011443	None	None
Abnormality of higher mental function	HP:0011446	None	Cognitive, psychiatric or memory anomaly.
Abdominal symptom	HP:0011458	None	A subjective manifestation of disease localized to the abdomen.
Childhood onset	HP:0011463	HP:0003617	Onset of disease at the age of between 1 and 5 years.
Abnormality of adrenal morphology	HP:0011732	None	Any structural anomaly of the adrenal glands.
Abnormality of the anterior pituitary	HP:0011747	None	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
Abnormality of the posterior pituitary	HP:0011751	None	An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
Posterior pituitary dysgenesis	HP:0011753	None	Abnormal development of the neurohypophysis during embryonic growth and development.
Posterior pituitary agenesis	HP:0011756	None	Absence of the neurohypophysis owing to a developmental defect.
Abnormal muscle physiology	HP:0011804	None	A functional abnormality of a skeletal muscle.
Abnormal skeletal muscle morphology	HP:0011805	HP:0003735	A structural abnormality of a skeletal muscle.
Abnormality of facial skeleton	HP:0011821	None	An abnormality of one or more of the set of bones that make up the facial skeleton.
Abnormality of skeletal morphology	HP:0011842	None	An abnormality of the form, structure, or size of the skeletal system.
Feeding difficulties	HP:0011968	None	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Neural tube defect	HP:0045005	None	A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.
Abnormal homeostasis	HP:0012337	None	An anomaly in the processes involved in the maintenance of an internal equilibrium.
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.
Abnormal vascular physiology	HP:0030163	None	Abnormality of vascular function.
Abnormality of central nervous system electrophysiology	HP:0030178	None	None
Maternal fever in pregnancy	HP:0030244	None	The occurence of an elevated body temperature of the mother during pregnancy.
Abnormality of pulmonary circulation	HP:0030875	None	A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.
Abnormal endocrine morphology	HP:0031071	None	Any anomaly of the structure of an organ ofthe endocrine system.
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.
Abnormal oral morphology	HP:0031816	None	Any structural anomaly of the mouth, which is also known as the oral cavity.
Abnormal circulating metabolite concentration	HP:0032180	None	An abnormal level of an analyte measured in the blood.
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.
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).
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.
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.
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.
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.
Abnormal pattern of respiration	HP:0002793	None	An anomaly of the rhythm or depth of breathing.
Aplasia/Hypoplasia involving the central nervous system	HP:0002977	HP:0001323	Absence or underdevelopment of tissue in the central nervous system.
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.
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.
Generalized neonatal hypotonia	HP:0008935	None	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.
Maternal diabetes	HP:0009800	None	Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.
Abnormal eye morphology	HP:0012372	HP:0012374	A structural anomaly of the globe of the eye, or bulbus oculi.
Abnormal enzyme/coenzyme activity	HP:0012379	None	An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.
Myoclonic seizure	HP:0032794	None	A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
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.
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.
Proptosis	HP:0000520	HP:0007870	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Abnormal urine metabolite level	HP:0033354	None	Any deviation from the normal concentration of a metabolite in urine.
Abnormality of the optic nerve	HP:0000587	None	Abnormality of the optic nerve.
Abnormality of the ear	HP:0000598	None	An abnormality of the ear.
Nystagmus	HP:0000639	None	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Lethargy	HP:0001254	None	A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Mental deterioration	HP:0001268	HP:0007298	Loss of previously present mental abilities, generally in adults.
Abnormality of the respiratory system	HP:0002086	None	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Abnormality of urine homeostasis	HP:0003110	HP:0011866	An abnormality of the composition of urine or the levels of its components.
Apnea	HP:0002104	HP:0005958	Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Hernia	HP:0100790	None	None
Abnormal respiratory system physiology	HP:0002795	None	None
Abnormality of the cerebrospinal fluid	HP:0002921	None	An abnormality of the cerebrospinal fluid (CSF).
Abnormality of the musculature	HP:0003011	HP:0040290	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Abnormal circulating amino acid concentration	HP:0003112	None	The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.
Cystathioninemia	HP:0003286	None	An increased concentration of cystathionine in the blood.
Aminoaciduria	HP:0003355	HP:0200014	An increased concentration of an amino acid in the urine.
Paresthesia	HP:0003401	HP:0002082	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
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 musculature of the limbs	HP:0009127	None	None
Brain atrophy	HP:0012444	None	Partial or complete wasting (loss) of brain tissue that was once present.
Abnormality of the pituitary gland	HP:0012503	None	An anomaly of the pituitary gland.
Peripheral neuropathy	HP:0009830	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.
Thymus hyperplasia	HP:0010516	None	Enlargement of the thymus.
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.
Abnormal involuntary eye movements	HP:0012547	None	Anomalous movements of the eyes that occur without the subject wanting them to happen.
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.
Neurodevelopmental delay	HP:0012758	None	None
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.
Abnormality of the eye	HP:0000478	None	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
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.
Abnormality of eye movement	HP:0000496	HP:0006860	An abnormality in voluntary or involuntary eye movements or their control.
Abnormality of the hypothalamus-pituitary axis	HP:0000864	HP:0000844	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
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.
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).
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.
Schizophrenia	HP:0100753	None	A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.
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.
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.