From HPO
Laryngeal papillomatosis- MedGen UID:
- 96006
- •Concept ID:
- C0396072
- •
- Neoplastic Process
A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.
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.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
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.
Polyarticular arthritis- MedGen UID:
- 56408
- •Concept ID:
- C0162323
- •
- Disease or Syndrome
An arthritis affecting five or more separate joints.
Autoimmune hemolytic anemia- MedGen UID:
- 1918
- •Concept ID:
- C0002880
- •
- Disease or Syndrome
An autoimmune form of hemolytic anemia.
Keratoconjunctivitis sicca- MedGen UID:
- 9620
- •Concept ID:
- C0022575
- •
- Disease or Syndrome
Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Thyroiditis- MedGen UID:
- 21548
- •Concept ID:
- C0040147
- •
- Disease or Syndrome
Inflammation of the thyroid gland.
Uveitis- MedGen UID:
- 52961
- •Concept ID:
- C0042164
- •
- Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Increased circulating IgA level- MedGen UID:
- 66800
- •Concept ID:
- C0239984
- •
- Finding
An abnormally increased level of immunoglobulin A in blood.
Hypereosinophilia- MedGen UID:
- 148170
- •Concept ID:
- C0745091
- •
- Disease or Syndrome
A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.
Punctate keratitis- MedGen UID:
- 736733
- •Concept ID:
- C1562761
- •
- Disease or Syndrome
A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.
Increased circulating IgG level- MedGen UID:
- 347032
- •Concept ID:
- C1858977
- •
- Finding
An abnormally increased level of immunoglobulin G in blood.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Epidermal acanthosis- MedGen UID:
- 65136
- •Concept ID:
- C0221270
- •
- Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
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.
Corneal neovascularization- MedGen UID:
- 43103
- •Concept ID:
- C0085109
- •
- Disease or Syndrome
Ingrowth of new blood vessels into the cornea.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality
- Neoplasm