Gene: PHIP
Cytoband position: 6q14.1
OMIM: 612870
RVIS score: -1.24
RVIS percentage: 0.82
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Seizure | HP:0001250 | HP:0001275,HP:0001303,HP:0002125,HP:0002182,HP:0002279,HP:0002306,HP:0002348,HP:0002391,HP:0002417,HP:0002430,HP:0002431,HP:0002432,HP:0002434,HP:0002437,HP:0002466,HP:0002479,HP:0002794,HP:0006997,HP:0010520 | A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| Disinhibition | HP:0000734 | None | Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. |
| Aggressive behavior | HP:0000718 | None | Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). |
| 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. |
| Recurrent otitis media | HP:0000403 | HP:0008622,HP:0008623,HP:0008624,HP:0040268 | Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. |
| Macrotia | HP:0000400 | HP:0000382,HP:0000386,HP:0000401,HP:0001755 | Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). |
| Aplasia/hypoplasia involving the skeleton | HP:0009115 | None | Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. |
| Long fingers | HP:0100807 | HP:0006010 | The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. |
| 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. |
| 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. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Unusual infection | HP:0032101 | None | A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. |
| Global developmental delay | HP:0001263 | HP:0000754,HP:0001255,HP:0001277,HP:0001292,HP:0002433,HP:0002473,HP:0002532,HP:0006793,HP:0006867,HP:0006885,HP:0006935,HP:0007005,HP:0007094,HP:0007106,HP:0007174,HP:0007224,HP:0007228,HP:0007342,HP:0025356 | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| Gait disturbance | HP:0001288 | HP:0006953 | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| Attention deficit hyperactivity disorder | HP:0007018 | HP:0001576,HP:0001577,HP:0006973 | Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. |
| Cognitive impairment | HP:0100543 | HP:0002128,HP:0002129,HP:0002302,HP:0002337,HP:0002441,HP:0006972,HP:0006998,HP:0007211 | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| All | HP:0000001 | None | None |
| Abnormal nasal morphology | HP:0005105 | None | None |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Hypertrichosis | HP:0000998 | None | Hypertrichosis is increased hair growth that is abnormal in quantity or location. |
| Cafe-au-lait spot | HP:0000957 | HP:0005601,HP:0007454 | Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. |
| Hyperpigmentation of the skin | HP:0000953 | HP:0007527 | A darkening of the skin related to an increase in melanin production and deposition. |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| 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. |
| 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. |
| Neonatal hypotonia | HP:0001319 | HP:0006830,HP:0008976 | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Clinical modifier | HP:0012823 | HP:0000004 | This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. |
| Abnormality of the upper limb | HP:0002817 | HP:0003838 | An abnormality of the arm. |
| Abnormal external genitalia | HP:0000811 | None | None |
| Abnormal muscle tone | HP:0003808 | None | None |
| Abnormal jaw morphology | HP:0030791 | None | A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. |
| Large earlobe | HP:0009748 | HP:0004449,HP:0004456 | Increased volume of the earlobe, that is, abnormally prominent ear lobules. |
| Cryptorchidism | HP:0000028 | HP:0000797 | Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. |
| 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. |
| 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. |
| 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. |
| 2-3 toe syndactyly | HP:0004691 | HP:0001846,HP:0001856,HP:0003773,HP:0004683,HP:0004685,HP:0004697,HP:0004703,HP:0008086,HP:0008123 | Syndactyly with fusion of toes two and three. |
| Macule | HP:0012733 | None | A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. |
| Hyperactivity | HP:0000752 | HP:0008764 | Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. |
| Functional abnormality of the gastrointestinal tract | HP:0012719 | None | Abnormal functionality of the gastrointestinal tract. |
| Anxiety | HP:0000739 | None | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| Short attention span | HP:0000736 | None | Reduced attention span characterized by distractibility and impulsivity. |
| 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 ocular adnexa morphology | HP:0030669 | None | A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Increased inflammatory response | HP:0012649 | None | A abnormal increase in the inflammatory response to injury or infection. |
| Abnormal inflammatory response | HP:0012647 | None | Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| Onset | HP:0003674 | HP:0003588,HP:0003590,HP:0003597,HP:0003602,HP:0003603,HP:0003618,HP:0003626,HP:0003628,HP:0003630,HP:0003663,HP:0003664,HP:0003668,HP:0011007 | The age group in which disease manifestations appear. |
| Infantile onset | HP:0003593 | HP:0003576,HP:0003579,HP:0003591,HP:0003594,HP:0003599,HP:0003600,HP:0003629,HP:0003631,HP:0003667,HP:0003672,HP:0010573 | Onset of signs or symptoms of disease between 28 days to one year of life. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Synophrys | HP:0000664 | HP:0002210 | Meeting of the medial eyebrows in the midline. |
| Deeply set eye | HP:0000490 | HP:0000663 | An eye that is more deeply recessed into the plane of the face than is typical. |
| Nystagmus | HP:0000639 | None | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Epicanthus | HP:0000286 | HP:0000624,HP:0007930 | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| Abnormality of the pharynx | HP:0000600 | None | An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| Upslanted palpebral fissure | HP:0000582 | None | The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. |
| Abnormal involuntary eye movements | HP:0012547 | None | Anomalous movements of the eyes that occur without the subject wanting them to happen. |
| Hypertelorism | HP:0000316 | HP:0000578,HP:0002001,HP:0004657,HP:0007871 | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| Thick eyebrow | HP:0000574 | HP:0004546 | Increased density/number and/or increased diameter of eyebrow hairs. |
| 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. |
| Hypermetropia | HP:0000540 | None | An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. |
| Abnormality of refraction | HP:0000539 | None | An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. |
| Abnormal eyebrow morphology | HP:0000534 | None | An abnormality of the eyebrow. |
| Ptosis | HP:0000508 | None | The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). |
| Deviation of the hand or of fingers of the hand | HP:0009484 | None | Displacement of the hand or of fingers of the hand from their normal position. |
| Abnormal eyelid morphology | HP:0000492 | HP:0000285 | An abnormality of the eyelids. |
| Abnormal eye morphology | HP:0012372 | HP:0000489,HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Anteverted nares | HP:0000463 | HP:0000427,HP:0000435,HP:0000441,HP:0004495 | Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). |
| Meconium stained amniotic fluid | HP:0012420 | None | Amniotic fluid containing the earliest stools of a mammalian infant. |
| Broad nasal tip | HP:0000455 | HP:0004501,HP:0005269 | Increase in width of the nasal tip. |
| Short nose | HP:0003196 | HP:0000440,HP:0000449,HP:0000450,HP:0003192,HP:0003195,HP:0005270,HP:0200092 | Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. |
| Abnormal nasal tip morphology | HP:0000436 | None | An abnormality of the nasal tip. |
| Abnormal morphology of the nasal alae | HP:0000429 | None | An abnormality of the Ala of nose. |
| Micrognathia | HP:0000347 | HP:0000210,HP:0000330,HP:0000345,HP:0002005,HP:0002674,HP:0004669,HP:0005460,HP:0005470 | Developmental hypoplasia of the mandible. |
| High forehead | HP:0000348 | HP:0000342 | An abnormally increased height of the forehead. |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormality of the middle ear | HP:0000370 | None | An abnormality of the middle ear. |
| Otitis media | HP:0000388 | None | Inflammation or infection of the middle ear. |
| Abnormal pinna morphology | HP:0000377 | HP:0000390,HP:0000398,HP:0004465,HP:0008562,HP:0008566,HP:0008567,HP:0008572,HP:0008580,HP:0008582,HP:0008594,HP:0008602,HP:0040111 | An abnormality of the pinna, which is also referred to as the auricle or external ear. |
| Fatigue | HP:0012378 | None | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormal earlobe morphology | HP:0000363 | None | An abnormality of the lobule of pinna. |
| Abnormality of the outer ear | HP:0000356 | HP:0001752 | An abnormality of the external ear. |
| Abnormality of the immune system | HP:0002715 | HP:0003257,HP:0003346,HP:0010986 | An abnormality of the immune system. |
| Long philtrum | HP:0000343 | None | Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. |
| Short philtrum | HP:0000322 | HP:0200090 | Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. |
| Round face | HP:0000311 | HP:0000304,HP:0004653 | The facial appearance is more circular than usual as viewed from the front. |
| Abnormality of the orbital region | HP:0000315 | HP:0000284 | None |
| Abnormal hip bone morphology | HP:0003272 | None | An abnormality of the hip bone. |
| Tapered finger | HP:0001182 | HP:0005795,HP:0005800,HP:0006032,HP:0006080,HP:0006098,HP:0006111,HP:0006125,HP:0006244,HP:0007532 | The gradual reduction in girth of the finger from proximal to distal. |
| Abnormality of the forehead | HP:0000290 | None | An anomaly of the forehead. |
| Abnormal respiratory system morphology | HP:0012252 | None | A structural anomaly of the respiratory system. |
| Abnormality of the philtrum | HP:0000288 | HP:0011216 | An abnormality of the philtrum. |
| Abnormal reproductive system morphology | HP:0012243 | None | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormal mandible morphology | HP:0000277 | HP:0000209 | Any abnormality of the mandible, the bone of the lower jaw. |
| Deviation of finger | HP:0004097 | HP:0006229 | Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. |
| Thin vermilion border | HP:0000233 | HP:0000213 | Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| High palate | HP:0000218 | HP:0000156,HP:0009080,HP:0009082,HP:0009097 | Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). |
| Tremor by anatomical site | HP:0030188 | None | Tremor classified by the affected body part. |
| Abnormal pharynx morphology | HP:0033151 | None | A structural anomaly of the pharynx. |
| 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. |
| Clinodactyly of the 5th finger | HP:0004209 | HP:0001158,HP:0001588,HP:0004212,HP:0006083,HP:0006181,HP:0009181 | Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). |
| Deviation of the 5th finger | HP:0009179 | HP:0006036 | Displacement of the 5th finger from its normal position. |
| Abnormal upper lip morphology | HP:0000177 | None | An abnormality of the upper lip. |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormal lip morphology | HP:0000159 | None | An abnormality of the lip. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Aplasia/hypoplasia affecting bones of the axial skeleton | HP:0009122 | None | Absence (due to failure to form) or underdevelopment of bones of the axial 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. |
| Aplasia/Hypoplasia of the mandible | HP:0009118 | None | Absence or underdevelopment of the mandible. |
| Aplasia/Hypoplasia involving bones of the skull | HP:0009116 | None | None |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008658,HP:0008688,HP:0008704,HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Clinodactyly | HP:0030084 | None | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). |
| Abnormal hand morphology | HP:0005922 | HP:0003098 | Any structural anomaly of the hand. |
| Increased body weight | HP:0004324 | HP:0045083 | Abnormally increased body weight. |
| Abnormal finger morphology | HP:0001167 | HP:0003035 | An anomaly of a finger. |
| Abnormality of the genital system | HP:0000078 | None | An abnormality of the genital system. |
| Abnormal testis morphology | HP:0000035 | None | An anomaly of the testicle (the male gonad). |
| Abnormal male external genitalia morphology | HP:0000032 | None | Any structural abnormality of male external genitalia. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001415,HP:0001447,HP:0001448,HP:0001451,HP:0001452,HP:0001455,HP:0001456,HP:0001463 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| Abnormality of globe location | HP:0100886 | None | An abnormality in the placement of the ocular globe (eyeball). |
| Hypermelanotic macule | HP:0001034 | HP:0007442,HP:0007491,HP:0007492,HP:0100815,HP:0200031,HP:0200033 | A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. |
| Abnormal experience of reality | HP:5200423 | None | Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences. |
| Abnormal judgment | HP:5200401 | None | Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation. |
| Impulsivity | HP:0100710 | None | Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress. |
| Abnormality of immune system physiology | HP:0010978 | None | A functional abnormality of the immune system. |
| Abnormal external nose morphology | HP:0010938 | None | An abnormality of the external nose. |
| Abnormal facial shape | HP:0001999 | HP:0002004,HP:0002260,HP:0004643,HP:0004649,HP:0004652,HP:0004655,HP:0004675,HP:0005124 | An abnormal morphology (form) of the face or its components. |
| Recurrent maladaptive behavior | HP:5200241 | None | A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions. |
| Maladaptive fear-related cognitions | HP:5200230 | None | Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli. |
| Almond-shaped palpebral fissure | HP:0007874 | None | A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Toe syndactyly | HP:0001770 | HP:0001828,HP:0005677 | Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\". |
| Abnormal ear morphology | HP:0031703 | None | Any structural anomaly of the ear. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Gastroesophageal reflux | HP:0002020 | HP:0004793 | A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. |
| Abnormal toe morphology | HP:0001780 | None | An anomaly of a toe. |
| Abnormal foot morphology | HP:0001760 | HP:0010216,HP:0010611 | An abnormality of the skeleton of foot. |
| Recurrent upper respiratory tract infections | HP:0002788 | HP:0001740,HP:0002784 | An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). |
| Abnormal nasopharynx morphology | HP:0001739 | None | A structural anomaly of the nasopharynx. |
| Reduced attention regulation | HP:5200044 | None | An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention. |
| Abnormality of the larynx | HP:0001600 | None | An abnormality of the larynx. |
| Abnormal hair morphology | HP:0001595 | None | An abnormality of the hair. |
| 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. |
| Obesity | HP:0001513 | None | Accumulation of substantial excess body fat. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| Abnormal joint physiology | HP:0034430 | None | None |
| Abnormal larynx morphology | HP:0025423 | None | Any anomaly of the structure of the larynx. |
| Irregular hyperpigmentation | HP:0007400 | None | None |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Joint hypermobility | HP:0001382 | HP:0001378,HP:0001380,HP:0001383,HP:0001388,HP:0002771,HP:0005034,HP:0005692 | The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. |
| Hip dysplasia | HP:0001385 | HP:0008787 | The presence of developmental dysplasia of the hip. |
| Tremor | HP:0001337 | HP:0001295,HP:0001309 | An unintentional, oscillating to-and-fro muscle movement about a joint axis. |
| Involuntary movements | HP:0004305 | HP:0007120 | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Abnormal esophagus physiology | HP:0025270 | None | Any physiological abnormality of the esophagus. |
| 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. |
| Syndactyly | HP:0001159 | HP:0001206,HP:0001236 | Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\". |
| Abnormal 5th finger morphology | HP:0004207 | None | An abnormality affecting one or both 5th fingers. |
| Constitutional symptom | HP:0025142 | None | A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. |
| Abnormality of prenatal development or birth | HP:0001197 | None | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormality of limbs | HP:0040064 | None | None |
| Finger clinodactyly | HP:0040019 | None | None |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Pediatric onset | HP:0410280 | None | Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. |
| Respiratory tract infection | HP:0011947 | None | An infection of the upper or lower respiratory tract. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Recurrent infections | HP:0002719 | HP:0002957,HP:0002964,HP:0005405 | Increased susceptibility to infections. |
| Abnormal respiratory system physiology | HP:0002795 | HP:0005952 | None |
| Feeding difficulties in infancy | HP:0008872 | HP:0002016,HP:0002022,HP:0002568 | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Abnormal musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| Recurrent respiratory infections | HP:0002205 | HP:0002782,HP:0002873 | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| Abnormal facial skeleton morphology | HP:0011821 | None | An abnormality of one or more of the set of bones that make up the facial skeleton. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormal limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Generalized joint hypermobility | HP:0002761 | None | Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. |
| Laryngeal cleft | HP:0008751 | None | Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus. |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Abnormal pelvic girdle bone morphology | HP:0002644 | None | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| Abnormal middle ear morphology | HP:0008609 | None | An abnormality of the morphology or structure of the middle ear. |
| Slanting of the palpebral fissure | HP:0200006 | None | None |
| Abnormal shape of the palpebral fissure | HP:0200005 | None | The presence of an abnormal shape of the palpebral fissure. |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Abnormal hair quantity | HP:0011362 | HP:0002115,HP:0011357 | An abnormal amount of hair. |
| Localized skin lesion | HP:0011355 | None | A lesion of the skin that is located in a specific region rather than being generalized. |
| Hand tremor | HP:0002378 | None | An unintentional, oscillating to-and-fro muscle movement affecting the hand. |
| Sleep abnormality | HP:0002360 | None | An abnormal pattern in the quality, quantity, or characteristics of sleep. |
| Abnormal nostril morphology | HP:0005288 | None | Abnormality of the nostril. |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Facial hypertrichosis | HP:0002219 | None | Excessive, increased hair growth located in the facial region. |
| Abnormal skin adnexa morphology | HP:0011138 | None | An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Abnormality of the ocular adnexa | HP:0032039 | None | An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Abnormal lung morphology | HP:0002088 | None | Any structural anomaly of the lung. |
| Abnormality of the upper respiratory tract | HP:0002087 | None | An abnormality of the upper respiratory tract. |
| 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 the palpebral fissures | HP:0008050 | None | An anomaly of the space between the medial and lateral canthi of the two open eyelids. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |