| HPO |
HP:0000407 |
Sensorineural hearing impairment |
"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson] |
Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). |
HP:0000365, HP:0011389 |
| HPO |
HP:0001177 |
Preaxial hand polydactyly |
"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:probinson] |
— |
HP:0001161, HP:0001172, HP:0100258 |
| HPO |
HP:0000733 |
Stereotypy |
"A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral." [HPO:probinson] |
An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. |
HP:0004305 |
| HPO |
HP:0001331 |
Absent septum pellucidum |
"Absence of the septum pellucidum." [HPO:probinson] |
TODO: Bundled term. Revise annotations and split this term. |
HP:0007375 |
| HPO |
HP:0002974 |
Radioulnar synostosis |
"An abnormal osseous union (fusion) between the radius and the ulna." [HPO:probinson] |
— |
HP:0002818, HP:0002997, HP:0100238 |
| HPO |
HP:0000639 |
Nystagmus |
"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
— |
HP:0012547 |
| HPO |
HP:0002057 |
Prominent glabella |
"Forward protrusion of the glabella." [HPO:probinson, PMID:19125436] |
The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. |
HP:0002056 |
| HPO |
HP:0006655 |
Rib segmentation abnormalities |
— |
— |
HP:0000772 |
| HPO |
HP:0007109 |
Periventricular cysts |
— |
— |
HP:0002518, HP:0010576 |
| HPO |
HP:0007385 |
Aplasia cutis congenita of scalp |
"A developmental defect resulting in the congenital absence of skin on the scalp." [HPO:probinson] |
— |
HP:0001057 |
| HPO |
HP:0011863 |
Abnormal sternal ossification |
"Any anomaly in the formation of the bony substance of the sternum." [HPO:probinson] |
The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. |
HP:0000766, HP:0003336 |
| HPO |
HP:0002827 |
Hip dislocation |
"Displacement of the femur from its normal location in the hip joint." [HPO:probinson] |
— |
HP:0001384, HP:0030311 |
| HPO |
HP:0004794 |
Malrotation of small bowel |
"A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel." [HPO:probinson] |
Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus. |
HP:0002244, HP:0002566 |
| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0007385 |
Aplasia cutis congenita of scalp |
"A developmental defect resulting in the congenital absence of skin on the scalp." [HPO:probinson] |
— |
HP:0001057 |
| HPO |
HP:0002144 |
Tethered cord |
"During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] |
— |
HP:0031938 |
| HPO |
HP:0001263 |
Global developmental delay |
"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." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| HPO |
HP:0001177 |
Preaxial hand polydactyly |
"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:probinson] |
— |
HP:0001161, HP:0001172, HP:0100258 |
| HPO |
HP:0001654 |
Abnormal heart valve morphology |
"Any structural abnormality of a cardiac valve." [HPO:probinson] |
— |
HP:0001627 |
| HPO |
HP:0006655 |
Rib segmentation abnormalities |
— |
— |
HP:0000772 |
| HPO |
HP:0000668 |
Hypodontia |
"The absence of five or less teeth from the normal series by a failure to develop." [HPO:ibailleulforestier, PMID:31468724] |
Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. |
HP:0009804 |
| HPO |
HP:0000902 |
Rib fusion |
"Complete or partial merging of adjacent ribs." [HPO:probinson] |
— |
HP:0000772 |
| HPO |
HP:0001762 |
Talipes equinovarus |
"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson, PMID:32491773] |
Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. |
HP:0001883 |
| HPO |
HP:0005264 |
Abnormality of the gallbladder |
"An abnormality of the gallbladder." [HPO:probinson] |
— |
HP:0004297 |
| HPO |
HP:0000488 |
Retinopathy |
"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [HPO:probinson] |
— |
HP:0000479 |