All terms in MONDO_RARE

Label Id Description
sweat gland disorder MONDO_0006615 [A disease involving the sweat gland.]
immunodeficiency 64 MONDO_0032803
immunodeficiency disease MONDO_0021094 [Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.]
palmoplantar keratoderma i, striate, focal, or diffuse MONDO_0007859
hereditary palmoplantar keratoderma MONDO_0019272 [An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.]
ectodermal dysplasia 15, hypohidrotic/hair type MONDO_0032804
allergic contact dermatitis MONDO_0006525 [An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.]
contact dermatitis MONDO_0005480 [An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.]
atopic eczema MONDO_0004980 [A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.]
palmoplantar keratoderma-esophageal carcinoma syndrome MONDO_0007856 [An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.]
focal palmoplantar keratoderma MONDO_0017672
erythrokeratodermia variabilis et progressiva 6 MONDO_0032801
erythrokeratodermia variabilis MONDO_0017851 [A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.]
allergic urticaria MONDO_0006526 [A urticaria with a basis in a pathological type I hypersensitivity reaction.]
urticaria MONDO_0005492 [A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.]
keratosis palmaris et plantaris-clinodactyly syndrome MONDO_0007857 [Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.]
diffuse palmoplantar keratoderma MONDO_0017666 [Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.]
hearing loss, autosomal dominant 37 MONDO_0032802
autosomal dominant nonsyndromic hearing loss MONDO_0019587 [Autosomal dominant form of nonsyndromic deafness.]
keratolytic winter erythema MONDO_0007854 [Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.]