From HPO
Asthma- MedGen UID:
- 2109
- •Concept ID:
- C0004096
- •
- Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Conjunctivitis- MedGen UID:
- 1093
- •Concept ID:
- C0009763
- •
- Disease or Syndrome
Inflammation of the conjunctiva.
Atopic eczema- MedGen UID:
- 41502
- •Concept ID:
- C0011615
- •
- Disease or Syndrome
Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007).
Genetic Heterogeneity of Atopic Dermatitis
Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.
Eczema- MedGen UID:
- 3968
- •Concept ID:
- C0013595
- •
- Disease or Syndrome
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Recurrent skin infections- MedGen UID:
- 377848
- •Concept ID:
- C1853193
- •
- Disease or Syndrome
Infections of the skin that happen multiple times.
Allergic rhinitis- MedGen UID:
- 382012
- •Concept ID:
- C2607914
- •
- Disease or Syndrome
It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
Food intolerance- MedGen UID:
- 57440
- •Concept ID:
- C0149696
- •
- Finding
A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.
Abnormality of metabolism/homeostasis- MedGen UID:
- 867398
- •Concept ID:
- C4021768
- •
- Finding
Infra-orbital fold- MedGen UID:
- 869032
- •Concept ID:
- C4023449
- •
- Finding
Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.
Ichthyosis- MedGen UID:
- 7002
- •Concept ID:
- C0020757
- •
- Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Pallor- MedGen UID:
- 10547
- •Concept ID:
- C0030232
- •
- Finding
Abnormally pale skin.
Pruritus- MedGen UID:
- 19534
- •Concept ID:
- C0033774
- •
- Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
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.
Flexural lichenification- MedGen UID:
- 870427
- •Concept ID:
- C4024873
- •
- Disease or Syndrome
Lichenification affecting primarily flexural areas of the skin.
Keratoconus- MedGen UID:
- 44015
- •Concept ID:
- C0022578
- •
- Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
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 metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument