| HPO |
HP:0000592 |
Blue sclerae |
"An abnormal bluish coloration of the sclera." [HPO:probinson] |
— |
HP:0000591 |
| HPO |
HP:0012385 |
Camptodactyly |
"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
— |
HP:0030044 |
| HPO |
HP:0005692 |
Joint hyperflexibility |
"Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles." [https://orcid.org/0000-0002-6548-5200] |
— |
HP:0001382 |
| HPO |
HP:0001288 |
Gait disturbance |
"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." [HPO:probinson, PMID:27770207] |
If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. |
HP:0100022 |
| HPO |
HP:0000559 |
Corneal scarring |
— |
— |
HP:0007957, HP:0100699 |
| HPO |
HP:0100790 |
Hernia |
— |
— |
HP:0003549 |
| HPO |
HP:0002659 |
Increased susceptibility to fractures |
"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
This is a bundled term that will be made obsolete. |
HP:0011843 |
| 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:0001319 |
Neonatal hypotonia |
"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0003326 |
Myalgia |
"Pain in muscle." [HPO:probinson] |
— |
HP:0012531 |
| HPO |
HP:0001119 |
Keratoglobus |
"Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [PMID:19667340] |
— |
HP:0007700, HP:0100689, HP:0100692 |
| HPO |
HP:0001166 |
Arachnodactyly |
"Abnormally long and slender fingers (\"spider fingers\")." [HPO:probinson] |
— |
HP:0001238, HP:0100807 |
| HPO |
HP:0001385 |
Hip dysplasia |
"The presence of developmental dysplasia of the hip." [HPO:probinson] |
— |
HP:0003272 |
| HPO |
HP:0005930 |
Abnormality of epiphysis morphology |
"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." [HPO:probinson] |
— |
HP:0011314 |
| HPO |
HP:0000501 |
Glaucoma |
"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, PMID:11815354] |
The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. |
HP:0012373 |
| HPO |
HP:0000978 |
Bruising susceptibility |
"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson] |
An ecchymosis is defined as being larger than 1 cm in size. |
HP:0001933 |
| HPO |
HP:0000405 |
Conductive hearing impairment |
"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [HPO:probinson] |
A conductive hearing impariment with greater than 90 dB loss. |
HP:0000365, HP:0011452 |
| HPO |
HP:0000541 |
Retinal detachment |
"Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [HPO:probinson] |
— |
HP:0000479 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000572 |
Visual loss |
"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [HPO:sdoelken] |
— |
HP:0000505 |
| HPO |
HP:0001763 |
Pes planus |
"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [HPO:probinson, PMID:19125433] |
'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal)) |
HP:0001760 |
| HPO |
HP:0000977 |
Soft skin |
"Subjective impression of increased softness upon palpitation of the skin." [HPO:probinson] |
— |
HP:0010647 |
| HPO |
HP:0009887 |
Abnormality of hair pigmentation |
"An abnormality of hair pigmentation (color)." [HPO:curators] |
— |
HP:0001595 |
| HPO |
HP:0200020 |
Corneal erosion |
"An erosion or abrasion of the cornea's outermost layer of epithelial cells." [HPO:sdoelken] |
— |
HP:0011495 |
| HPO |
HP:0000164 |
Abnormality of the dentition |
"Any abnormality of the teeth." [HPO:ibailleulforestier] |
Any abnormality of the primary (deciduous) or permanent teeth. |
HP:0000163 |