All terms in MONDO_RARE

Label Id Description
cerebellar degeneration MONDO_0022687 [Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.]
uveitis MONDO_0020283 [An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.]
spermatogenic failure 42 MONDO_0032896
non-recovering obstetric brachial plexus lesion MONDO_0018587
acquired peripheral neuropathy MONDO_0015923 [An instance of peripheral neuropathy that is acquired during the lifetime of the individual.]
zinc-responsive necrolytic acral erythema MONDO_0018586
idiopathic anterior uveitis MONDO_0017256
anterior uveitis MONDO_0006651 [Inflammation of the iris and anterior chamber of the eye.]
AApoAIV amyloidosis MONDO_0018589
amyloidosis MONDO_0019065 [A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.]
idiopathic posterior uveitis MONDO_0017257 [Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.]
idiopathic panuveitis MONDO_0017258 [Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.]
developmental and epileptic encephalopathy, 83 MONDO_0032895
ALECT2 amyloidosis MONDO_0018588 [A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.]
congenital pulmonary airway malformation type 3 MONDO_0017251
human infection by orthopoxvirus MONDO_0018583
viral infectious disease MONDO_0005108 [Any disease caused by a virus.]
GCGR-related hyperglucagonemia MONDO_0018582 [A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.]
pancreatic neoplasm MONDO_0021040 [A benign or malignant neoplasm involving the pancreas.]
congenital pulmonary airway malformation type 4 MONDO_0017252