Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
penis	UBERON_0000989	[An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination.]
fatty acyl-CoA reductase defects	MONDO_0100275	[Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.]
disorder of defective peroxisomal and mitochondrial fission	MONDO_0100276	[A disease that has its basis in the disruption of peroxisome and mitochondrial fission.]
disorder of peroxisomal alpha oxidation	MONDO_0100277	[Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.]
alanine glyoxylate aminotransferase deficiency	MONDO_0100278	[Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.]
disorder of glyoxylate metabolism	MONDO_0017703
orotic acid	CHEBI_16742	[A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6., Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release., A pyrimidinemonocarboxylic acid that has formula C5H4N2O4.]
amnioserosa	UBERON_0010302	[A single extraembryonic epithelium, which closes the germband dorsally.]
extraembryonic tissue	UBERON_0005292	[Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo.]
imidacloprid	CHEBI_5870
doxorubicin	CHEBI_28748	[A deoxy hexoside that has formula C27H29NO11.]
ejaculatory duct	UBERON_0000999	[The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted].]
seminal vesicle	UBERON_0000998	[Either of a pair of glandular pouches that lie one on either side of the male reproductive tract posterolateral to the urinary bladder and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct.]
vagina	UBERON_0000996	[A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP].]
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	MONDO_0100283	[A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.]
X-linked intellectual disability	MONDO_0100284	[An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.]
developmental disorder of mental health	EFO_0005548	[A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.]
Goldmann-Favre syndrome	MONDO_0100289	[A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).]
creatinine	CHEBI_16737
2,4-dichlorophenol	CHEBI_16738	[The sixth of the seven cervical vertebrae., A dichlorophenol that has formula C6H4Cl2O.]