Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
partial deletion of the long arm of chromosome 8	MONDO_0016907	[Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
partial deletion of chromosome 8	MONDO_0016873
partial duplication of chromosome 2	MONDO_0016922
partial duplication of chromosome 3	MONDO_0016923
partial duplication of chromosome 4	MONDO_0016924
obsolete_paternal uniparental disomy of chromosome 13	Orphanet_99324
partial trisomy/tetrasomy of chromosome 5	MONDO_0016925
loop of Henle ascending limb thin segment	UBERON_0004193	[A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water.]
nephron tubule	UBERON_0001231	[An epithelial tube that is part of the nephron, the functional part of the kidney.]
loop of Henle	UBERON_0001288	[The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine.]
Rectal abscess	HP_0005224	[A collection of pus in the area of the rectum.]
Abnormal rectum morphology	HP_0002034	[An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.]
partial duplication of chromosome 1	MONDO_0016921
Pyro-L-glutaminyl-L-glutamine	CHEBI_88956	[A dpeptide obtained by formal condensation of the carboxy group of L-pyroglutamine with the amino group of L-glutamine]
substance dependence	MONDO_0004938	[The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.]
neurosyphilis	MONDO_0004944	[Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.]
obsolete_maternally-inherited mitochondrial myopathy	Orphanet_254788
partial deletion of the long arm of chromosome 21	MONDO_0016919
obsolete_48,XYYY syndrome	Orphanet_99329
sn-glycerol 3-phosphate	CHEBI_15978