Gene: DUOX2
Cytoband position: 15q21.1
OMIM: 606759
RVIS score: 0.23
RVIS percentage: 68.52
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormality of cardiovascular system electrophysiology | HP:0030956 | None | An anomaly of the electrical conduction physiology of the heart. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Prolonged neonatal jaundice | HP:0006579 | HP:0000986 | Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. |
| Jaundice | HP:0000952 | None | Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| Abnormal epiphysis morphology | HP:0005930 | HP:0000936 | An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Abnormal tongue morphology | HP:0030809 | None | Any structural anomaly of the tongue. |
| Intellectual disability | HP:0001249 | HP:0000730,HP:0001267,HP:0001286,HP:0002122,HP:0002192,HP:0002316,HP:0002382,HP:0002386,HP:0002402,HP:0002458,HP:0002482,HP:0002499,HP:0002543,HP:0003767,HP:0006833,HP:0006877,HP:0007154,HP:0007176,HP:0007180 | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| Goiter | HP:0000853 | None | An enlargement of the thyroid gland. |
| Congenital hypothyroidism | HP:0000851 | None | A type of hypothyroidism with congenital onset. |
| Hypothyroidism | HP:0000821 | HP:0003222,HP:0008203 | Deficiency of thyroid hormone. |
| Abnormality of the thyroid gland | HP:0000820 | None | An abnormality of the thyroid gland. |
| Abnormality of the endocrine system | HP:0000818 | None | An abnormality of the endocrine system. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormality of skin pigmentation | HP:0001000 | HP:0007582,HP:0200045 | An abnormality of the pigmentation of the skin. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Abnormal umbilicus morphology | HP:0001551 | None | An abnormality of the structure or appearance of the umbilicus. |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Neurodevelopmental delay | HP:0012758 | None | Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. |
| Constipation | HP:0002019 | HP:0002241,HP:0003786 | Infrequent or difficult evacuation of feces. |
| Diminished motivation | HP:0000745 | None | A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Skeletal muscle hypertrophy | HP:0003712 | HP:0009042 | Abnormal increase in muscle size and mass not due to training. |
| Atypical behavior | HP:0000708 | HP:0000715,HP:0002368,HP:0002456 | Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. |
| Abnormality of the musculature | HP:0003011 | HP:0003197,HP:0003708,HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| 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 limb epiphysis morphology | HP:0006505 | None | An anomaly of one or more epiphyses of a limb. |
| Abnormal lower limb epiphysis morphology | HP:0006500 | None | An anomaly of one or more epiphyses of one or both legs. |
| Abnormal femoral epiphysis morphology | HP:0006499 | HP:0006412,HP:0008811 | An anomaly of a growth plate of a femur. |
| Abnormal circulating bilirubin concentration | HP:0033479 | None | None |
| Depressed nasal bridge | HP:0005280 | HP:0000425,HP:0000428,HP:0000439,HP:0000459,HP:0004413,HP:0004505,HP:0004506,HP:0004666,HP:0005119,HP:0005284 | Posterior positioning of the nasal root in relation to the overall facial profile for age. |
| 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. |
| Sensorineural hearing impairment | HP:0000407 | HP:0000374,HP:0001753,HP:0001916,HP:0008538,HP:0008553,HP:0008565,HP:0008576,HP:0008611,HP:0008613,HP:0008614 | A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. |
| Hearing impairment | HP:0000365 | HP:0000404,HP:0001728,HP:0001729,HP:0001754,HP:0008560,HP:0008563 | A decreased magnitude of the sensory perception of sound. |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Hearing abnormality | HP:0000364 | None | An abnormality of the sensory perception of sound. |
| Abnormal femoral head morphology | HP:0003368 | None | An abnormality of the femoral head. |
| Abnormal femoral neck/head morphology | HP:0003366 | None | None |
| Abnormal enchondral ossification | HP:0003336 | HP:0003331 | An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. |
| Abnormal bone structure | HP:0003330 | None | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| Abnormality of muscle size | HP:0030236 | None | Abnormalities of the overall muscle bulk based on clinical observation. |
| Neonatal hyperbilirubinemia | HP:0003265 | HP:0008152 | A type of hyperbilirubinemia with neonatal onset. |
| Facial edema | HP:0000282 | None | None |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormal circulating T4 concentration | HP:0031505 | None | A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of the fontanelles or cranial sutures | HP:0000235 | None | Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). |
| Macroglossia | HP:0000158 | HP:0000203 | Increased length and width of the tongue. |
| Abnormal circulating hormone concentration | HP:0003117 | None | Concentration of a hormone in the blood circulation outside of normal limits. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| 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. |
| 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 tongue | HP:0000157 | None | Any abnormality of the tongue. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| 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. |
| Abnormal ossification involving the femoral head and neck | HP:0009107 | None | None |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Aplasia/Hypoplasia of the thyroid gland | HP:0033079 | None | Absence or underdevelopment of the thyroid gland. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001416,HP:0001526,HP:0031362 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| All | HP:0000001 | None | None |
| Abnormal circulating organic compound concentration | HP:0430071 | None | Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom. |
| Hernia | HP:0100790 | None | None |
| Hypersomnia | HP:0100786 | None | Excessive sleepiness or feeling of sleepiness, or difficulty staying awake despite having had adequate sleep, which persists over several days. |
| Abnormal long bone morphology | HP:0011314 | HP:0100713,HP:0100714,HP:0100715 | An abnormality of size or shape of the long bones. |
| Abnormal circulating dicarboxylic acid concentration | HP:0010995 | None | Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Abnormal motivation | HP:5200275 | None | Behavioral patterns and/or energy/activity levels that are statistically uncommon within a particular culture, maladaptive, and result in personal distress and impairment in the individual's functioning. |
| 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). |
| Abdominal wall defect | HP:0010866 | None | An incomplete closure of the abdominal wall. |
| Abnormal circulating protein concentration | HP:0010876 | None | An abnormal level of a circulating protein in the blood. |
| Abnormal ear physiology | HP:0031704 | None | Any functional anomaly of the ear. |
| Arrhythmia | HP:0011675 | HP:0001656,HP:0001661,HP:0001665,HP:0001666,HP:0001675,HP:0001687,HP:0001721,HP:0004351,HP:0005158 | Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. |
| Abnormal epiphyseal ossification | HP:0010656 | None | An abnormality of the formation and mineralization of an epiphysis. |
| Bradycardia | HP:0001662 | None | A slower than normal heart rate (in adults, slower than 60 beats per minute). |
| Hoarse voice | HP:0001609 | HP:0001613,HP:0001619 | Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. |
| Hoarse cry | HP:0001615 | None | None |
| Abnormality of the voice | HP:0001608 | None | None |
| Abnormal circulating thyroid hormone concentration | HP:0031508 | None | Any deviation from the normal range of the hormones produced by the thyroid gland. |
| Decreased circulating T4 concentration | HP:0031507 | None | A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). |
| Abnormality of the epiphysis of the femoral head | HP:0010574 | HP:0010589 | Any abnormality of the proximal epiphysis of the femur. |
| Mottled pigmentation | HP:0001070 | HP:0007584 | Patchy and irregular skin pigmentation. |
| Large posterior fontanelle | HP:0004491 | None | An enlargement of the posterior fontanelle relative to age-dependent norms. |
| Increased circulating thyroglobulin concentration | HP:0025484 | None | An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. |
| Delayed proximal femoral epiphyseal ossification | HP:0008828 | None | Developmental delay of ossification of the proximal epiphysis of the femur. |
| Abnormal circulating thyroglobulin concentration | HP:0025483 | None | A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. |
| Abnormality of the abdominal wall | HP:0004298 | HP:0001462 | The presence of any abnormality affecting the abdominal wall. |
| Abnormal femur morphology | HP:0002823 | HP:0001439 | Any anomaly of the structure of the femur. |
| 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. |
| 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 | HP:0004372 | None | Abnormally diminished level of attention, responsiveness, or wakefulness. |
| Mendelian inheritance | HP:0034345 | None | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| Cholestasis | HP:0001396 | None | Impairment of bile flow due to obstruction in bile ducts. |
| Abnormality of the liver | HP:0001392 | None | An abnormality of the liver. |
| Reduced tendon reflexes | HP:0001315 | HP:0001316 | Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. |
| Abnormality of the biliary system | HP:0004297 | None | An abnormality of the biliary system. |
| Hernia of the abdominal wall | HP:0004299 | None | The presence of a hernia in the abdominal wall. |
| Abnormal radioactive iodine uptake test result | HP:0031221 | None | Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. |
| Increased radioactive iodine uptake | HP:0031220 | None | An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. |
| Reduced radioactive iodine uptake | HP:0031219 | None | A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. |
| Hyporeflexia | HP:0001265 | HP:0002467 | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| Lethargy | HP:0001254 | None | A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. |
| 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. |
| Postterm pregnancy | HP:0031169 | None | A pregnancy that extends to 42 weeks of gestation or beyond. |
| Abnormality of prenatal development or birth | HP:0001197 | None | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Abnormal lower limb bone morphology | HP:0040069 | HP:0040066 | None |
| Abnormality of limbs | HP:0040064 | None | None |
| Abnormal thyroid-stimulating hormone level | HP:0031097 | None | Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Dermatological manifestations of systemic disorders | HP:0001005 | None | None |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Thyroid hypoplasia | HP:0005990 | None | Developmental hypoplasia of the thyroid gland. |
| Abnormality of thyroid physiology | HP:0002926 | None | An abnormal functionality of the thyroid gland. |
| Elevated circulating thyroid-stimulating hormone concentration | HP:0002925 | None | Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. |
| Hyperbilirubinemia | HP:0002904 | None | An increased amount of bilirubin in the blood. |
| Delayed epiphyseal ossification | HP:0002663 | HP:0005862 | None |
| 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 bone ossification | HP:0011849 | None | Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Abnormality of facial soft tissue | HP:0011799 | None | None |
| Abnormal thyroid morphology | HP:0011772 | None | A structural abnormality of the thyroid gland. |
| Pregnancy history | HP:0002686 | None | Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Maternal autoimmune disease | HP:0011437 | None | A medical history of a fetus or child born to a mother with an autoimmune disease. |
| Functional abnormality of the inner ear | HP:0011389 | None | An abnormality of the function of the inner ear. |
| Generalized abnormality of skin | HP:0011354 | None | An abnormality of the skin that is not localized to any one particular region. |
| Sleep abnormality | HP:0002360 | None | An abnormal pattern in the quality, quantity, or characteristics of sleep. |
| Abnormality of fontanelles | HP:0011328 | None | An abnormality of the fontanelle. |
| Abnormality of cranial sutures | HP:0011329 | None | Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. |
| Drowsiness | HP:0002329 | None | Abnormal feeling of sleepiness or difficulty staying awake. |
| Thyroid defect in oxidation and organification of iodide | HP:0008263 | None | None |
| Abnormal circulating metabolite concentration | HP:0032180 | None | An abnormal level of an analyte measured in the blood. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Abnormal nasal morphology | HP:0005105 | None | None |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Hypothermia | HP:0002045 | None | Reduced body temperature due to failed thermoregulation. |
| Abnormality of the abdominal organs | HP:0002012 | None | An abnormality of the viscera of the abdomen. |
| Delayed cranial suture closure | HP:0000270 | HP:0002704,HP:0003794 | Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. |
| Large fontanelles | HP:0000239 | HP:0004473 | In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. |
| 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. |
| Positive perchlorate discharge test | HP:0025482 | None | An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. |
| Feeding difficulties in infancy | HP:0008872 | HP:0002016,HP:0002022,HP:0002568 | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| Past medical history | HP:0032443 | None | In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc. |