Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
nephrolithiasis	EFO_0004253	[Formation of stones in the KIDNEY., Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE., The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.]
dense deposit disease	MONDO_0019736	[Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.]
X-linked sideroblastic anemia 1	MONDO_0020721
inborn disorder of porphyrin metabolism	MONDO_0017754	[An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.]
AApoAI amyloidosis	MONDO_0019731
AFib amyloidosis	MONDO_0019733
ALys amyloidosis	MONDO_0019732
ceftriaxone	CHEBI_29007	[A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups.]
hyperkeratosis-hyperpigmentation syndrome	MONDO_0007757	[Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.]
epidermolytic palmoplantar keratoderma	MONDO_0007758	[A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.]
hyperkeratosis lenticularis perstans	MONDO_0007756
hypercholesterolemia, autosomal dominant, type B	MONDO_0007751
hypercholesterolemia, familial, 1	MONDO_0007750
cystinuria type B	MONDO_0019746
cystinuria type A	MONDO_0019745
cefalotin	CHEBI_124991
late-onset nephronophthisis	MONDO_0019742
familial cystic renal disease	MONDO_0019741	[An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.]
Cystic Kidney Disease	EFO_0008615	[A congenital or acquired kidney disorder characterized by the presence of renal cysts. [ NCI ], A congenital or acquired kidney disorder characterized by the presence of renal cysts.]
3-phosphoglyceric acid	CHEBI_17050	[A monophosphoglyceric acid having the phospho group at the 3-position. It is an intermediate in metabolic pathways like glycolysis and calvin cycle.]