The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.
Gene: AUTS2
Cytoband position: 7q11.22
OMIM: 607270
RVIS score: -1.97
RVIS percentage: 2.09
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Delayed speech and language development | HP:0000750 | HP:0002116,HP:0002117,HP:0002336,HP:0002399,HP:0002498,HP:0006936,HP:0007004,HP:0007127,HP:0007170,HP:0007172 | A degree of language development that is significantly below the norm for a child of a specified age. |
| 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. |
| 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. |
| Short stature | HP:0004322 | HP:0001509,HP:0003501,HP:0003507,HP:0003512,HP:0003518,HP:0003519,HP:0008871,HP:0008882,HP:0008888,HP:0008913 | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| 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 midface morphology | HP:0000309 | HP:0430026 | An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. |
| 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. |
| 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. |
| Atrial septal defect | HP:0001631 | HP:0001630 | Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. |
| Abnormal cheek morphology | HP:0004426 | None | An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface |
| Narrow palm | HP:0004283 | None | For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. |
| 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. |
| 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 morphology of the nasal alae | HP:0000429 | None | An abnormality of the Ala of nose. |
| Motor delay | HP:0001270 | HP:0001307,HP:0002130,HP:0006788,HP:0006826,HP:0006909,HP:0006950,HP:0006968,HP:0007219,HP:0007251 | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| 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. |
| 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 nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| 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. |
| Eczematoid dermatitis | HP:0000964 | HP:0000976,HP:0001481 | Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. |
| 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. |
| Abnormality of the vertebral column | HP:0000925 | None | Any abnormality of the vertebral column. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Hyperreflexia | HP:0001347 | HP:0001282,HP:0006820,HP:0007184,HP:0007318 | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| 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. |
| 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. |
| Abnormality of upper limb joint | HP:0009810 | None | None |
| 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. |
| Flexion contracture of finger | HP:0012785 | None | Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. |
| 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. |
| 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. |
| Short palpebral fissure | HP:0012745 | None | Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. |
| 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. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Short attention span | HP:0000736 | None | Reduced attention span characterized by distractibility and impulsivity. |
| 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. |
| Motor stereotypy | HP:0000733 | HP:0008758,HP:0008759 | Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. |
| Autistic behavior | HP:0000729 | None | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. |
| Compulsive behaviors | HP:0000722 | None | Behavior that consists of repetitive acts, characterized by the feeling that one \"has to\" perform them, while being aware that these acts are not in line with one's overall goal. |
| 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 cardiovascular system morphology | HP:0030680 | HP:0001632,HP:0002564,HP:0002565 | Any structural anomaly of the heart and blood vessels. |
| 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. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Proptosis | HP:0000520 | HP:0000536,HP:0000644,HP:0000645,HP:0007711,HP:0007870 | An eye that is protruding anterior to the plane of the face to a greater extent than is typical. |
| Neonatal onset | HP:0003623 | HP:0003622 | Onset of signs or symptoms of disease within the first 28 days of life. |
| 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 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. |
| 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. |
| 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 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). |
| Joint contracture of the hand | HP:0009473 | HP:0001160,HP:0001237,HP:0004094,HP:0005814,HP:0006096,HP:0006173,HP:0006215,HP:0006238,HP:0006255,HP:0009409,HP:0009472,HP:0010563 | Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. |
| 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. |
| Thick vermilion border | HP:0012471 | None | Increased width of the skin of vermilion border region of upper lip. |
| Downslanted palpebral fissures | HP:0000494 | HP:0007714,HP:0007908 | The palpebral fissure inclination is more than two standard deviations below the mean. |
| 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. |
| 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. |
| Abnormal brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| 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). |
| 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 tip morphology | HP:0000436 | None | An abnormality of the nasal tip. |
| Wide nasal bridge | HP:0000431 | HP:0000424,HP:0004500,HP:0004504,HP:0004650,HP:0200139 | Increased breadth of the nasal bridge (and with it, the nasal root). |
| Scoliosis | HP:0002650 | HP:0002770,HP:0003303,HP:0003317,HP:0003415 | The presence of an abnormal lateral curvature of the spine. |
| Micrognathia | HP:0000347 | HP:0000210,HP:0000330,HP:0000345,HP:0002005,HP:0002674,HP:0004669,HP:0005460,HP:0005470 | Developmental hypoplasia of the mandible. |
| 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. |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| 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. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormal periauricular region morphology | HP:0000383 | None | None |
| Abnormal location of ears | HP:0000357 | None | Abnormal location of the ear. |
| 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. |
| 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. |
| Kyphosis | HP:0002808 | HP:0002769,HP:0003314 | Exaggerated anterior convexity of the thoracic vertebral column. |
| Abnormality of the orbital region | HP:0000315 | HP:0000284 | None |
| Deep philtrum | HP:0002002 | HP:0000305,HP:0004654 | Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. |
| 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. |
| Retrognathia | HP:0000278 | HP:0002053,HP:0002954 | An abnormality in which the mandible is mislocalised posteriorly. |
| Microcephaly | HP:0000252 | HP:0001366,HP:0005485,HP:0005489,HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Brachycephaly | HP:0000248 | HP:0002258,HP:0004479,HP:0008512 | An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| 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. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Limb joint contracture | HP:0003121 | HP:0005631,HP:0005839 | A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. |
| 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. |
| Decreased palmar creases | HP:0006184 | HP:0006178 | Poorly defined or shallow palmar creases. |
| 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). |
| Joint contracture of the 5th finger | HP:0009183 | HP:0001184 | Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. |
| Deviation of the 5th finger | HP:0009179 | HP:0006036 | Displacement of the 5th finger from its normal position. |
| Wide mouth | HP:0000154 | HP:0000181,HP:0002052 | Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). |
| Abnormal upper lip morphology | HP:0000177 | None | An abnormality of the upper lip. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Narrow mouth | HP:0000160 | HP:0002261,HP:0009095,HP:0009096 | Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). |
| 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 of the mandible | HP:0009118 | None | Absence or underdevelopment of the mandible. |
| Aplasia/Hypoplasia involving bones of the skull | HP:0009116 | None | None |
| Aplasia/hypoplasia involving the skeleton | HP:0009115 | None | Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. |
| 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. |
| Abnormal heart morphology | HP:0001627 | HP:3000001 | Any structural anomaly of the heart. |
| 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. |
| 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. |
| Inguinal hernia | HP:0000023 | None | Protrusion of the contents of the abdominal cavity through the inguinal canal. |
| 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 body height | HP:0000002 | None | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| All | HP:0000001 | None | None |
| Abnormality of globe location | HP:0100886 | None | An abnormality in the placement of the ocular globe (eyeball). |
| Abnormal palm morphology | HP:0100871 | None | An abnormality of the palm, that is, of the front of the hand. |
| Hernia | HP:0100790 | None | None |
| 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. |
| Highly arched eyebrow | HP:0002553 | HP:0001584,HP:0004533,HP:0007681,HP:0007804,HP:0008505 | Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. |
| 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. |
| Delayed fine motor development | HP:0010862 | None | A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. |
| Abnormal forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Decreased body weight | HP:0004325 | HP:0001823,HP:0001826 | Abnormally low body weight. |
| 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. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Abnormal foot morphology | HP:0001760 | HP:0010216,HP:0010611 | An abnormality of the skeleton of foot. |
| Abnormal cardiac septum morphology | HP:0001671 | HP:0001690,HP:0004760 | An anomaly of the intra-atrial or intraventricular septum. |
| Sensory hypersensitivity | HP:5200058 | None | A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress. |
| Sensory behavioral abnormality | HP:5200046 | None | Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli. |
| 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. |
| Upper-limb joint contracture | HP:0100360 | None | A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. |
| Finger joint contracture | HP:0034681 | None | Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. |
| Abnormal curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Skin pit | HP:0100276 | None | A small, skin-lined tract that leads from the surface to deep within the tissues. |
| Periauricular skin pits | HP:0100277 | None | Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. |
| Abnormal tendon morphology | HP:0100261 | None | An abnormality of the structure or form of the tendons, also often called sinews. |
| Abnormal hair morphology | HP:0001595 | None | An abnormality of the hair. |
| 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. |
| 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. |
| Growth delay | HP:0001510 | HP:0001434,HP:0001512,HP:0001514,HP:0001517,HP:0001532,HP:0008847,HP:0008870,HP:0008886,HP:0008893,HP:0008926 | A deficiency or slowing down of growth pre- and postnatally. |
| Small for gestational age | HP:0001518 | HP:0001422,HP:0008849,HP:0008919,HP:0008927 | Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. |
| Intrauterine growth retardation | HP:0001511 | HP:0001515,HP:0008862,HP:0008892,HP:0008931 | An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Restricted or repetitive behaviors or interests | HP:0031432 | None | A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions. |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| Abnormal communication | HP:0034434 | None | Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level. |
| Abnormal joint physiology | HP:0034430 | None | None |
| Abnormality of the palmar creases | HP:0010490 | None | An abnormality of the creases of the skin of palm of hand. |
| Aplasia/Hypoplasia of the palmar creases | HP:0010488 | None | Absence or underdevelopment of the palmar creases. |
| Bilateral ptosis | HP:0001488 | None | None |
| Abnormal dermatoglyphics | HP:0007477 | HP:0007422 | An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. |
| Abnormality of the abdominal wall | HP:0004298 | HP:0001462 | The presence of any abnormality affecting the abdominal wall. |
| Inflammatory abnormality of the skin | HP:0011123 | HP:0002727,HP:0007423 | The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. |
| 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. |
| Cerebral palsy | HP:0100021 | None | Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. |
| Joint contracture | HP:0034392 | None | A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| 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. |
| Arthrogryposis multiplex congenita | HP:0002804 | HP:0001389,HP:0001390,HP:0002759,HP:0005188,HP:0005663,HP:0005809,HP:0005859 | Multiple congenital contractures in different body areas. |
| Flexion contracture | HP:0001371 | HP:0001372,HP:0001381,HP:0005053,HP:0005189,HP:0005660 | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Abnormal joint morphology | HP:0001367 | None | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| 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. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0002405,HP:0002413,HP:0002481,HP:0007319 | A structural abnormality of the central nervous system. |
| Abnormal skin morphology of the palm | HP:0040211 | None | An abnormality of the skin of the palm, that is, the skin of the front of the hand. |
| Hernia of the abdominal wall | HP:0004299 | None | The presence of a hernia in the abdominal wall. |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Abnormal cardiac atrium morphology | HP:0005120 | None | Any structural abnormality of a cardiac atrium. |
| Generalized hypotonia | HP:0001290 | None | Generalized muscular hypotonia (abnormally low muscle tone). |
| 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. |
| 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. |
| Abnormal 5th finger morphology | HP:0004207 | None | An abnormality affecting one or both 5th fingers. |
| 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. |
| Auditory sensitivity | HP:0025112 | None | Decreased tolerance to sound. |
| 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 |
| Abnormal palmar dermatoglyphics | HP:0001018 | None | An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. |
| 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. |
| Abnormal atrial septum morphology | HP:0011994 | None | An abnormality of the interatrial septum. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| 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. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| 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. |
| Congenital contracture | HP:0002803 | None | One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. |
| Repetitive compulsive behavior | HP:0008762 | None | None |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Abnormal calvaria morphology | HP:0002683 | HP:0002648 | Abnormality of the morphology (structure) 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. |
| Slanting of the palpebral fissure | HP:0200006 | None | None |
| Abnormal size of the palpebral fissures | HP:0200007 | None | An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. |
| 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. |
| 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. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Language impairment | HP:0002463 | None | Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. |
| Localized skin lesion | HP:0011355 | None | A lesion of the skin that is located in a specific region rather than being generalized. |
| Regional abnormality of skin | HP:0011356 | None | An abnormality of the skin that is restricted to a particular body region. |
| Abnormality of mouth size | HP:0011337 | None | None |
| Abnormal nostril morphology | HP:0005288 | None | Abnormality of the nostril. |
| Prominent nasal tip | HP:0005274 | None | None |
| Abnormality of speech or vocalization | HP:0002167 | None | Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering. |
| Abnormality of skin physiology | HP:0011122 | None | Any abnormality of the physiological function of the skin. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Abnormal nasal morphology | HP:0005105 | None | None |
| 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 cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality of the palpebral fissures | HP:0008050 | None | An anomaly of the space between the medial and lateral canthi of the two open eyelids. |