- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Onychogryphosis (HP:0001805): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Psoriasiform dermatitis (HP:0003765): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Recurrent bacterial skin infections (HP:0005406): Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Chronic monilial nail infection (HP:0008396): Chronic infection of the nails by Candida species. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Perianal dermatitis (HP:0011131): The presence of a rash (change of color and texture) of the perianal skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Horizontal eyebrow (HP:0011228): An eyebrow that extends straight across the brow, without curve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Generalized abnormality of skin (HP:0011354): An abnormality of the skin that is not localized to any one particular region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Anal fissure (HP:0012390): A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Bloody diarrhea (HP:0025085): Passage of many stools containing blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Recurrent gastroenteritis (HP:0031123): Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Chapped lip (HP:0040181): Cracking, fissuring, and peeling of the skin of the lips. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Slow-growing scalp hair (HP:0100038): Scalp hair whose growth is slower than normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Pustule (HP:0200039): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Otitis externa (HP:0410017): Inflammation or infection of the external auditory canal (EAC), the auricle, or both. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294023)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294023)
These phenotypes are associated with the disease Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome (ORPHA:294023).