All terms in MONDO_RARE

Label Id Description
LAMA3 6483
Thing Thing
LAMA5 6485
LAMB3 6490
LAMC2 6493
HPS1 5163
arteritis MONDO_0043494 [An inflammatory process affecting an artery.]
arterial disorder MONDO_0000473 [An impairment of the structure or function of the blood vessels which carry blood away from the heart.]
vasculitis MONDO_0018882 [Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease.]
HRAS 5173
dendritic cell deficiency MONDO_0850812 [A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.]
inborn error of immunity MONDO_0003778 [A disorder in which the immune system is unable to mount an adequate immune response.]
HRG 5181
NDUFV2 7717
XIAP 592
developmental and/or epileptic encephalopathy with spike-wave activation in sleep MONDO_0800501 [A spectrum of conditions with varied degree of cognitive, language, behavioral, and motor regression associated with marked spike-wave activation in sleep. The regression is seen within weeks of the EEG pattern. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy). Landau–Kleffner syndrome is a specific subtype of EE-SWAS, where regression affects mainly language, with an acquired auditory agnosia.]
childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy MONDO_0800500 [A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition.]
childhood-onset self-limited focal epilepsy syndrome MONDO_0800502 [A group of conditions characterized by age-dependent occurrence in otherwise normal children. Cognition and neurological evaluation are typically normal. Remission occurs in almost all patients by puberty. Presumed genetic factors have an important role. Seizure semiology and electroencephalographic (EEG) features are specific for each of the syndromes included in this group.]
childhood-onset epilepsy syndrome MONDO_0020072 [A epilepsy syndrome that occurs during childhood.]
focal epilepsy MONDO_0005384 [A seizure caused by a localized disorder.]