From HPO
2-3 toe cutaneous syndactyly- MedGen UID:
- 98470
- •Concept ID:
- C0432040
- •
- Congenital Abnormality
4-5 toe syndactyly- MedGen UID:
- 324891
- •Concept ID:
- C1837836
- •
- Finding
Syndactyly with fusion of toes four and five.
2-4 finger syndactyly- MedGen UID:
- 866881
- •Concept ID:
- C4021236
- •
- Anatomical Abnormality
Syndactyly with fusion of the fingers two to four.
Cutaneous finger syndactyly- MedGen UID:
- 866898
- •Concept ID:
- C4021254
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Palmar hyperkeratosis- MedGen UID:
- 869284
- •Concept ID:
- C4023710
- •
- Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand.
Heat intolerance- MedGen UID:
- 66659
- •Concept ID:
- C0231274
- •
- Pathologic Function
The inability to maintain a comfortable body temperature in warm or hot weather.
Enamel hypoplasia- MedGen UID:
- 3730
- •Concept ID:
- C0011351
- •
- Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Conical tooth- MedGen UID:
- 82730
- •Concept ID:
- C0266037
- •
- Congenital Abnormality
An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
Widely spaced teeth- MedGen UID:
- 337093
- •Concept ID:
- C1844813
- •
- Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Sparse scalp hair- MedGen UID:
- 346499
- •Concept ID:
- C1857042
- •
- Finding
Decreased number of hairs per unit area of skin of the scalp.
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.
Pili torti- MedGen UID:
- 82670
- •Concept ID:
- C0263491
- •
- Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Small nail- MedGen UID:
- 537942
- •Concept ID:
- C0263523
- •
- Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Coarse hair- MedGen UID:
- 124454
- •Concept ID:
- C0277959
- •
- Finding
Hair shafts are rough in texture.
Hypoplastic toenails- MedGen UID:
- 332409
- •Concept ID:
- C1837279
- •
- Finding
Underdevelopment of the toenail.
Sparse eyelashes- MedGen UID:
- 375151
- •Concept ID:
- C1843300
- •
- Finding
Decreased density/number of eyelashes.
Absent facial hair- MedGen UID:
- 376305
- •Concept ID:
- C1848192
- •
- Finding
Absence of facial hair.
Patchy alopecia- MedGen UID:
- 350774
- •Concept ID:
- C1862862
- •
- Finding
Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the integument