Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
subopercle	UBERON_2000284	[Dermal bone that is part of the opercular series, lying below the opercle. The subopercle is paired and is typically a thin bone.]
vancomycin	CHEBI_28001	[A complex glycopeptide from Streptomyces orientalis. It inhibits a specific step in the synthesis of the peptidoglycan layer in the Gram-positive bacteria Staphylococcus aureus and Clostridium difficile., The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis.]
antimicrobial agent	CHEBI_33281	[A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans.]
activated PI3K-delta syndrome	MONDO_0018338
agammaglobulinemia	MONDO_0015977	[A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.]
Inability to walk	HP_0002540	[Incapability to ambulate.]
severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	MONDO_0018337
mitochondrial disease	MONDO_0044970
PrP systemic amyloidosis	MONDO_0018339	[Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.]
inherited prion disease	MONDO_0017234	[An instance of prion disease that is caused by an inherited modification of the individual's genome.]
autosomal dominant hereditary sensory and autonomic neuropathy	MONDO_0015365	[Autosomal dominant form of hereditary sensory and autonomic neuropathy.]
multiple acyl-CoA dehydrogenase deficiency, mild type	MONDO_0018333
multiple acyl-CoA dehydrogenase deficiency	MONDO_0009282	[A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.]
obsolete deep dermatophytosis	MONDO_0018335
mucinous adenocarcinoma of the appendix	MONDO_0018330	[Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.]
colon mucinous adenocarcinoma	EFO_0000364	[An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.]
Appendix Adenocarcinoma	EFO_1000088	[A carcinoma that arises from glandular epithelial cells of the vermiform appendix.]
multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	MONDO_0018332
Paramecium tetraurelia	NCBITaxon_5888
hereditary angioedema with normal C1Inh	MONDO_0033947