From HPO
Abnormality of the hand- MedGen UID:
- 6715
- •Concept ID:
- C0018564
- •
- Anatomical Abnormality
An abnormality affecting one or both hands.
Palmoplantar keratosis- MedGen UID:
- 44017
- •Concept ID:
- C0022596
- •
- Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Abnormal foot morphology- MedGen UID:
- 1762829
- •Concept ID:
- C5399834
- •
- Anatomical Abnormality
An abnormality of the skeleton of foot.
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).
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.
Blepharitis- MedGen UID:
- 598
- •Concept ID:
- C0005741
- •
- Disease or Syndrome
Inflammation of the eyelids.
Conjunctivitis- MedGen UID:
- 1093
- •Concept ID:
- C0009763
- •
- Disease or Syndrome
Inflammation of the conjunctiva.
Abnormality of the dentition- MedGen UID:
- 78084
- •Concept ID:
- C0262444
- •
- Finding
Any abnormality of the teeth.
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Ectodermal dysplasia- MedGen UID:
- 8544
- •Concept ID:
- C0013575
- •
- Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Onycholysis- MedGen UID:
- 39324
- •Concept ID:
- C0085661
- •
- Disease or Syndrome
Detachment of the nail from the nail bed.
Hyperpigmentation of the skin- MedGen UID:
- 57992
- •Concept ID:
- C0162834
- •
- Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Brittle hair- MedGen UID:
- 120480
- •Concept ID:
- C0263490
- •
- Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Alopecia totalis- MedGen UID:
- 75525
- •Concept ID:
- C0263504
- •
- Disease or Syndrome
Loss of all scalp hair.
Small nail- MedGen UID:
- 537942
- •Concept ID:
- C0263523
- •
- Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Fine hair- MedGen UID:
- 98401
- •Concept ID:
- C0423867
- •
- Finding
Hair that is fine or thin to the touch.
Slow-growing hair- MedGen UID:
- 371309
- •Concept ID:
- C1832348
- •
- Finding
Hair whose growth is slower than normal.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Sparse eyelashes- MedGen UID:
- 375151
- •Concept ID:
- C1843300
- •
- Finding
Decreased density/number of eyelashes.
Absent pubic hair- MedGen UID:
- 349155
- •Concept ID:
- C1859391
- •
- Finding
Absence of pubic hair.
Absent axillary hair- MedGen UID:
- 347869
- •Concept ID:
- C1859392
- •
- Finding
Absence of axillary hair.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the nervous system
- Growth abnormality