Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
inborn carbohydrate metabolic disorder	MONDO_0019214	[An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.]
obsolete_split foot, unilateral	Orphanet_295124
Arabidopsis suecica	NCBITaxon_45249
hymenolepiasis	EFO_0007317	[A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability., A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.]
Human T-lymphotropic virus 1 infectious disease	EFO_0007316	[A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder., A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.]
obsolete_split hand, bilateral	Orphanet_295122
hordeolum	EFO_0007315	[An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess., Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.]
chloroquine	CHEBI_3638	[Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI), A quinoline alkaloid that has formula C18H26ClN3.]
sci-Hi-C	EFO_0009977	[sci-Hi-C stands for single-cell combinatorial indexed Hi-C, and is a Hi-C assay performed on massively multiplexed single-cell samples.]
obsolete_brachydactyly of fingers, unilateral	Orphanet_295128
Hypoplasia of the maxilla	HP_0000327	[Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.]
Abnormal jaw morphology	HP_0030791	[A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.]
sn-Hi-C	EFO_0009978	[sn-Hi-C stands for single nucleus Hi-C and is a Hi-C assay performed on isolated nuclei.]
single cell Hi-C	EFO_0009979	[A single cell Hi-C assay.]
obsolete_split foot, bilateral	Orphanet_295126
ulcer	MPATH_579	[Loss of epithelium and the basement membrane (full thickness). Cf Erosion.]
hyperprolactinemia	EFO_0007319	[An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood., Abnormally high level of prolactin in the blood.]
cytosolic non-specific dipeptidase measurement	EFO_0020310	[The determination of the amount of cytosolic non-specific dipeptidase in a sample]
cytotoxic and regulatory t-cell molecule measurement	EFO_0020311	[The determination of the amount of cytotoxic and regulatory t-cell molecule in a sample]
East Asian	HANCESTRO_0009	[Includes individuals who either self-report or have been described by authors as East Asian or one of the sub-populations from this region (e.g Chinese). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CDX, CHB, CHS and JPT populations.]