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.
Carious teeth- MedGen UID:
- 8288
- •Concept ID:
- C0011334
- •
- Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Enamel hypoplasia- MedGen UID:
- 3730
- •Concept ID:
- C0011351
- •
- Disease or Syndrome
Developmental hypoplasia of the dental enamel.
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
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
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.
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.
Perifollicular fibrosis- MedGen UID:
- 440567
- •Concept ID:
- C2748531
- •
- Finding
Presence of excess fibrous connective tissue surrounding hair follicules.
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