From HPO
Skin basal cell carcinoma- MedGen UID:
- 1648304
- •Concept ID:
- C4721806
- •
- Neoplastic Process
The presence of a basal cell carcinoma of the skin.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
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.
Eczematoid dermatitis- MedGen UID:
- 3968
- •Concept ID:
- C0013595
- •
- Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Acne inversa- MedGen UID:
- 57993
- •Concept ID:
- C0162836
- •
- Disease or Syndrome
A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.
Furrowed tongue- MedGen UID:
- 21583
- •Concept ID:
- C0040412
- •
- Anatomical Abnormality
Accentuation of the grooves on the dorsal surface of the tongue.
Underdeveloped nasal alae- MedGen UID:
- 322332
- •Concept ID:
- C1834055
- •
- Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Narrow nasal ridge- MedGen UID:
- 373404
- •Concept ID:
- C1837761
- •
- Finding
Decreased width of the nasal ridge.
Low hanging columella- MedGen UID:
- 344656
- •Concept ID:
- C1856119
- •
- Finding
Columella extending inferior to the level of the nasal base, when viewed from the side.
Hypohidrosis- MedGen UID:
- 43796
- •Concept ID:
- C0020620
- •
- Disease or Syndrome
Abnormally diminished capacity to sweat.
Nevus- MedGen UID:
- 45074
- •Concept ID:
- C0027960
- •
- Neoplastic Process
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Hyperpigmentation of the skin- MedGen UID:
- 57992
- •Concept ID:
- C0162834
- •
- Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
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.
Trichorrhexis nodosa- MedGen UID:
- 82668
- •Concept ID:
- C0263485
- •
- Disease or Syndrome
Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
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.
Coarse hair- MedGen UID:
- 124454
- •Concept ID:
- C0277959
- •
- Finding
Hair shafts are rough in texture.
Milia- MedGen UID:
- 87528
- •Concept ID:
- C0345996
- •
- Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Trichoepithelioma- MedGen UID:
- 138112
- •Concept ID:
- C0349658
- •
- Neoplastic Process
A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
- Abnormality of head or neck
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Neoplasm