Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_primary bone dysplasia with disorganized development of skeletal components	Orphanet_93450
bacterial nucleoid	GO_0043590	[ The region of a bacterial cell to which the DNA is confined. ]
hypotrichosis 4	MONDO_0007806	[Any hypotrichosis in which the cause of the disease is a mutation in the HR gene.]
hypotrichosis	MONDO_0003037	[A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.]
obsolete_syndrome with synostosis or other joint formation defect	Orphanet_93459
obsolete_non-syndromic polydactyly, syndactyly and/or hyperphalangy	Orphanet_93458
obsolete_non-syndromic limb reduction defect	Orphanet_93457
chromosome 18p deletion syndrome	MONDO_0007800	[Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.]
obsolete_patellar dysostosis	Orphanet_93455
Treponema denticola	NCBITaxon_158
silk gland	UBERON_0011146	[Any of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air.]
2-hydroxyglutaric acid	CHEBI_17084	[A 2-hydroxydicarboxylic acid that is glutaric acid in which one hydrogen alpha- to a carboxylic acid group is substituted by a hydroxy group.]
ichthyosis hystrix gravior	MONDO_0007809
keratinopathic ichthyosis	MONDO_0017266
ichthyosis hystrix of Curth-Macklin	MONDO_0007808	[Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).]
vagus nerve	UBERON_0001759	[Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart).]
IgE responsiveness, atopic	MONDO_0007817	[Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.]
ichthyosis, lamellar, autosomal dominant	MONDO_0007812
lamellar ichthyosis	MONDO_0017778	[A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.]
superficial epidermolytic ichthyosis	MONDO_0007813	[Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.]