From HPO
Epistaxis- MedGen UID:
- 4996
- •Concept ID:
- C0014591
- •
- Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Gingival bleeding- MedGen UID:
- 42218
- •Concept ID:
- C0017565
- •
- Pathologic Function
Hemorrhage affecting the gingiva.
Menorrhagia- MedGen UID:
- 44358
- •Concept ID:
- C0025323
- •
- Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Impaired platelet aggregation- MedGen UID:
- 383786
- •Concept ID:
- C1855853
- •
- Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
Excessive bleeding after a venipuncture- MedGen UID:
- 868217
- •Concept ID:
- C4022609
- •
- Pathologic Function
An abnormal high amount of bleeding following the procedure of taking a blood sample.
Excessive bleeding from superficial cuts- MedGen UID:
- 868218
- •Concept ID:
- C4022610
- •
- Pathologic Function
An abnormally increased degree of bleeding following a superficial injury to the surface of the skin.
Albinism- MedGen UID:
- 182
- •Concept ID:
- C0001916
- •
- Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
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.
Silver-gray hair- MedGen UID:
- 322949
- •Concept ID:
- C1836576
- •
- Finding
Hypopigmented hair that appears silver-gray.
Generalized hypopigmentation- MedGen UID:
- 340426
- •Concept ID:
- C1849923
- •
- Finding
Astigmatism- MedGen UID:
- 2473
- •Concept ID:
- C0004106
- •
- Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Esotropia- MedGen UID:
- 4550
- •Concept ID:
- C0014877
- •
- Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Exotropia- MedGen UID:
- 4613
- •Concept ID:
- C0015310
- •
- Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Hypermetropia- MedGen UID:
- 43780
- •Concept ID:
- C0020490
- •
- Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Myopia- MedGen UID:
- 44558
- •Concept ID:
- C0027092
- •
- Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Ocular albinism- MedGen UID:
- 38147
- •Concept ID:
- C0078917
- •
- Congenital Abnormality
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
High myopia- MedGen UID:
- 78759
- •Concept ID:
- C0271183
- •
- Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Horizontal nystagmus- MedGen UID:
- 124399
- •Concept ID:
- C0271385
- •
- Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Pendular nystagmus- MedGen UID:
- 78770
- •Concept ID:
- C0271388
- •
- Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Optic disc pallor- MedGen UID:
- 108218
- •Concept ID:
- C0554970
- •
- Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Blue irides- MedGen UID:
- 108297
- •Concept ID:
- C0578626
- •
- Finding
A markedly blue coloration of the iris.
Iris transillumination defect- MedGen UID:
- 786045
- •Concept ID:
- C1096099
- •
- Anatomical Abnormality
Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.
Hyperopia, high- MedGen UID:
- 341009
- •Concept ID:
- C1855925
- •
- Finding
A severe form of hypermetropia with over +5.00 diopters.
Myopic astigmatism- MedGen UID:
- 748561
- •Concept ID:
- C2363771
- •
- Disease or Syndrome
A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.
Foveal hypoplasia- MedGen UID:
- 393047
- •Concept ID:
- C2673946
- •
- Finding
Underdevelopment of the fovea centralis.
Moderate hypermetropia- MedGen UID:
- 1637815
- •Concept ID:
- C4703504
- •
- Disease or Syndrome
A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.
- Abnormality of blood and blood-forming tissues
- Abnormality of the eye
- Abnormality of the integument