From HPO
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
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).
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
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.
Spastic paraparesis- MedGen UID:
- 52432
- •Concept ID:
- C0037771
- •
- Sign or Symptom
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Photophobia- MedGen UID:
- 43220
- •Concept ID:
- C0085636
- •
- Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
CNS demyelination- MedGen UID:
- 137898
- •Concept ID:
- C0338474
- •
- Disease or Syndrome
A loss of myelin from nerve fibers in the central nervous system.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
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.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
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.
Thoracic kyphosis- MedGen UID:
- 263148
- •Concept ID:
- C1184919
- •
- Finding
Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Reduced tissue fatty aldehyde dehydrogenase activity- MedGen UID:
- 1054418
- •Concept ID:
- CN378063
- •
- Finding
Activity of fatty aldehyde dehydrogenase (EC 1.2.1.3) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes.
Enamel hypoplasia- MedGen UID:
- 3730
- •Concept ID:
- C0011351
- •
- Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Ichthyosis- MedGen UID:
- 7002
- •Concept ID:
- C0020757
- •
- Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Abnormal hair morphology- MedGen UID:
- 56381
- •Concept ID:
- C0157733
- •
- Finding
An abnormality of the hair.
Abnormal nail morphology- MedGen UID:
- 163115
- •Concept ID:
- C0853087
- •
- Anatomical Abnormality
Abnormal structure or appearance of the nail.
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).
Macular degeneration- MedGen UID:
- 7434
- •Concept ID:
- C0024437
- •
- Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Alternating exotropia- MedGen UID:
- 101825
- •Concept ID:
- C0152207
- •
- Disease or Syndrome
A type of exotropia in which either eye may be used for fixation.
Color vision defect- MedGen UID:
- 115964
- •Concept ID:
- C0234629
- •
- Finding
An anomaly in the ability to discriminate between or recognize colors.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Retinal pigment epithelial atrophy- MedGen UID:
- 333564
- •Concept ID:
- C1840457
- •
- Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
Opacification of the corneal epithelium- MedGen UID:
- 336534
- •Concept ID:
- C1849198
- •
- Finding
Lack of transparency of the corneal epithelium.
Retinal thinning- MedGen UID:
- 762617
- •Concept ID:
- C3549703
- •
- Finding
Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).
Macular crystals- MedGen UID:
- 892788
- •Concept ID:
- C4072988
- •
- Finding
Crystalline deposits in the macula.
Macular dots- MedGen UID:
- 1671017
- •Concept ID:
- C4732810
- •
- Finding
Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality