From HPO
Palmoplantar keratoderma- MedGen UID:
- 1635750
- •Concept ID:
- C4551675
- •
- Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
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.
Folliculitis- MedGen UID:
- 4752
- •Concept ID:
- C0016436
- •
- Disease or Syndrome
Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.
Keratitis- MedGen UID:
- 44013
- •Concept ID:
- C0022568
- •
- Disease or Syndrome
Inflammation of the cornea.
Ectropion- MedGen UID:
- 4448
- •Concept ID:
- C0013592
- •
- Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
Scarring alopecia of scalp- MedGen UID:
- 812631
- •Concept ID:
- C3806301
- •
- Finding
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
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.
Facial erythema- MedGen UID:
- 65986
- •Concept ID:
- C0239488
- •
- Finding
Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
Keratosis pilaris- MedGen UID:
- 82664
- •Concept ID:
- C0263383
- •
- Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Phrynoderma- MedGen UID:
- 83101
- •Concept ID:
- C0334013
- •
- Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Sparse eyelashes- MedGen UID:
- 375151
- •Concept ID:
- C1843300
- •
- Finding
Decreased density/number of eyelashes.
Perifollicular fibrosis- MedGen UID:
- 440567
- •Concept ID:
- C2748531
- •
- Finding
Presence of excess fibrous connective tissue surrounding hair follicules.
Dystrophic fingernails- MedGen UID:
- 764340
- •Concept ID:
- C3551426
- •
- Finding
The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.
Corneal dystrophy- MedGen UID:
- 3619
- •Concept ID:
- C0010036
- •
- Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
- 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