All terms in MONDO_RARE

Label Id Description
benign neoplasm of peripheral nervous system MONDO_0056804
peripheral nervous system neoplasm MONDO_0001406 [A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.]
central nervous system organ benign neoplasm MONDO_0000628 [A benign neoplasm that involves the central nervous system.]
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MONDO_0032855
NDUFS8 7715
phototoxic dermatitis MONDO_0006598 [Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.]
photosensitivity disease MONDO_0006597 [Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.]
physical urticaria MONDO_0006599 [A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.]
inflammatory bowel disease MONDO_0005265 [A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.]
intestinal disorder MONDO_0005020 [A non-neoplastic or neoplastic disorder that affects the small or large intestine.]
photoallergic dermatitis MONDO_0006596 [A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.]
radiodermatitis MONDO_0043771 [A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.]
cardiovascular disorder MONDO_0004995 [A disease involving the cardiovascular system.]
autoimmune bullous skin disease MONDO_0019337 [An autoimmune disease characterized by blisters on the skin.]
parapsoriasis MONDO_0006592 [Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.]
psoriasis MONDO_0005083 [An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.]
allergic disease MONDO_0005271 [An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.]
hypersensitivity reaction disease MONDO_0000605 [An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.]
adult germ cell tumor MONDO_0044878 [A germ cell tumor that occurs during adulthood.]
paraneoplastic cerebellar degeneration MONDO_0044877 [A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.]