| HPO |
HP:0000575 |
Scotoma |
"A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision." [HPO:probinson] |
— |
HP:0001123 |
| HPO |
HP:0000576 |
Centrocecal scotoma |
"A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape." [HPO:probinson] |
— |
HP:0000575 |
| HPO |
HP:0000577 |
Exotropia |
"A form of strabismus with one or both eyes deviated outward." [HPO:probinson] |
— |
HP:0020049, HP:0032012 |
| HPO |
HP:0000579 |
Nasolacrimal duct obstruction |
"Blockage of the lacrimal duct." [HPO:probinson] |
— |
HP:0011481 |
| HPO |
HP:0000580 |
Pigmentary retinopathy |
"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [ORCID:0000-0003-0986-4123] |
— |
HP:0007703 |
| HPO |
HP:0000581 |
Blepharophimosis |
"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [PMID:19125427] |
When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus. |
HP:0200007 |
| HPO |
HP:0000582 |
Upslanted palpebral fissure |
"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." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0000584 |
Punctate corneal epithelial erosions |
— |
— |
HP:0200020 |
| HPO |
HP:0000585 |
Band keratopathy |
"An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [HPO:probinson] |
— |
HP:0011493 |
| HPO |
HP:0000586 |
Shallow orbits |
"Reduced depth of the orbits associated with prominent-appearing ocular globes." [HPO:probinson] |
— |
HP:0000520, HP:3000030 |
| HPO |
HP:0000587 |
Abnormality of the optic nerve |
"Abnormality of the optic nerve." [HPO:probinson] |
The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. |
HP:0001098 |
| HPO |
HP:0000588 |
Optic disc coloboma |
"A cleft of the optic nerve that extends inferiorly." [HPO:probinson, PMID:16219745] |
A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. |
HP:0000589, HP:0012795 |
| HPO |
HP:0000589 |
Coloboma |
"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa." [HPO:probinson] |
— |
HP:0012372 |
| HPO |
HP:0000590 |
Progressive external ophthalmoplegia |
"Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades." [HPO:probinson] |
Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. |
HP:0000544 |
| HPO |
HP:0000591 |
Abnormal sclera morphology |
"An abnormality of the sclera." [HPO:probinson] |
— |
HP:0012372 |
| HPO |
HP:0000592 |
Blue sclerae |
"An abnormal bluish coloration of the sclera." [HPO:probinson] |
— |
HP:0000591 |
| HPO |
HP:0000593 |
Abnormal anterior chamber morphology |
"Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [HPO:probinson] |
— |
HP:0004328 |
| HPO |
HP:0000594 |
Shallow anterior chamber |
"Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [HPO:probinson] |
— |
HP:0000593 |
| HPO |
HP:0000597 |
Ophthalmoparesis |
"Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] |
— |
HP:0000496 |
| HPO |
HP:0000598 |
Abnormality of the ear |
"An abnormality of the ear." [HPO:probinson] |
Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. |
HP:0000118 |
| HPO |
HP:0000599 |
Abnormality of the frontal hairline |
"An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not." [HPO:probinson] |
— |
HP:0000290, HP:0009553 |
| HPO |
HP:0000600 |
Abnormality of the pharynx |
"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly." [HPO:probinson] |
The pharynx is tubular structure extending from base of skull superiorly\nto esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. |
HP:0002087 |
| HPO |
HP:0000601 |
Hypotelorism |
"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [HPO:probinson, PMID:19125427] |
— |
HP:0100886 |
| HPO |
HP:0000602 |
Ophthalmoplegia |
"Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson] |
— |
HP:0000597 |
| HPO |
HP:0000603 |
Central scotoma |
"An area of depressed vision located at the point of fixation and that interferes with central vision." [HPO:probinson] |
— |
HP:0000575 |