Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
amelogenesis imperfecta type 1G	MONDO_0008771	[An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.]
amelogenesis imperfecta	MONDO_0019507	[Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.]
nephropathy secondary to a storage or other metabolic disease	MONDO_0019743
amyotrophic lateral sclerosis type 2, juvenile	MONDO_0008780	[Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.]
juvenile amyotrophic lateral sclerosis	MONDO_0017593	[Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.]
Laryngeal Adenoid Cystic Carcinoma	EFO_1000319	[A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.]
laryngeal carcinoma	MONDO_0002358	[Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.]
Lacrimal Gland Adenoid Cystic Carcinoma	EFO_1000317	[A adenoid cystic carcinoma that involves the lacrimal gland.]
lacrimal gland adenocarcinoma	MONDO_0002475	[A carcinoma that arises from glandular epithelial cells of the lacrimal gland]
C-C motif chemokine 22 measurement	EFO_0020196	[The determination of the amount of C-C motif chemokine 22 in a sample]
Langerhans Cell Histiocytosis	EFO_1000318	[Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.]
lymphatic system disease	EFO_0007352	[a disease in lymphatic system, A disease involving the lymphatic part of lymphoid system.]
dendritic cell tumor	MONDO_0020082	[A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.]
Langerhans cell	CL_0000453	[Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus.]
hereditary xanthinuria	MONDO_0018106	[Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.]
xanthinuria	MONDO_0000721	[A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.]
inborn disorder of purine metabolism	MONDO_0019236	[An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.]
C-C motif chemokine 24 measurement	EFO_0020197	[The determination of the amount of C-C motif chemokine 24 in a sample]
Kidney Oncocytoma	EFO_1000315	[A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.]
fulminant viral hepatitis	MONDO_0018109	[Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.]