From HPO
Abnormality of the hand- MedGen UID:
- 6715
- •Concept ID:
- C0018564
- •
- Anatomical Abnormality
An abnormality affecting one or both hands.
Abnormal foot morphology- MedGen UID:
- 1762829
- •Concept ID:
- C5399834
- •
- Anatomical Abnormality
An abnormality of the skeleton of foot.
Abnormal dental morphology- MedGen UID:
- 11849
- •Concept ID:
- C0040427
- •
- Anatomical Abnormality
An abnormality of the morphology of the tooth.
Abnormality of the dentition- MedGen UID:
- 78084
- •Concept ID:
- C0262444
- •
- Finding
Any abnormality of the teeth.
Sparse scalp hair- MedGen UID:
- 346499
- •Concept ID:
- C1857042
- •
- Finding
Decreased number of hairs per unit area of skin of the scalp.
Epidermoid cysts- MedGen UID:
- 41829
- •Concept ID:
- C0014511
- •
- Anatomical Abnormality
Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.
Pallor- MedGen UID:
- 69133
- •Concept ID:
- C0241137
- •
- Finding
Abnormally pale skin.
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.
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.
Abnormal nail morphology- MedGen UID:
- 163115
- •Concept ID:
- C0853087
- •
- Anatomical Abnormality
Abnormal structure or appearance of the nail.
Reduced terminal:vellus ratio- MedGen UID:
- 1706135
- •Concept ID:
- C5139385
- •
- Finding
A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.
Absent sebaceous glands- MedGen UID:
- 1706541
- •Concept ID:
- C5139558
- •
- Anatomical Abnormality
Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
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.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Macular atrophy- MedGen UID:
- 140841
- •Concept ID:
- C0423421
- •
- Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Blindness- MedGen UID:
- 99138
- •Concept ID:
- C0456909
- •
- Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Macular dystrophy- MedGen UID:
- 196451
- •Concept ID:
- C0730292
- •
- Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
Macular hyperpigmentation- MedGen UID:
- 488933
- •Concept ID:
- C0745109
- •
- Finding
Increased amount of pigmentation in the macula lutea.
Choriocapillaris atrophy- MedGen UID:
- 477389
- •Concept ID:
- C3275758
- •
- Finding
Atrophy of the capillary lamina of choroid.
Subretinal deposits- MedGen UID:
- 1613321
- •Concept ID:
- C4531024
- •
- Finding
Deposits accumulating between the outer retina and the retinal pigment epithelium.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the integument