All terms in MONDO_RARE

Label Id Description
LAMA3 6483
Thing Thing
LAMA5 6485
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
KRAS 6407
KRT1 6412
NEK1 7744
KRT14 6416
hypotrichosis 2 MONDO_0007805 [Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.]
hypotrichosis MONDO_0003037 [A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.]
hypotrichosis simplex of the scalp MONDO_0019575 [Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.]