Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital disorder of glycosylation	MONDO_0015286	[Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.]
obsolete congenital disorder of glycosylation with deafness as a major feature	MONDO_0018295
obsolete congenital disorder of glycosylation with nephropathy as a major feature	MONDO_0018294
obsolete congenital disorder of glycosylation with cardiac malformation as a major feature	MONDO_0018290
multi-infarct dementia	MONDO_0043224	[A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.]
vascular dementia	EFO_0004718	[A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions., An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)]
vasa recta descending limb	UBERON_0009202
vasa recta	UBERON_0004726	[In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle.]
obsolete_mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	Orphanet_319595
distal trisomy 17q	MONDO_0018069	[Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.]
partial duplication of the long arm of chromosome 17	MONDO_0016967
trisomy X	MONDO_0018066	[Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).]
chromosome X disorder	MONDO_0700027	[Chromosomal disorder in which chromosome X is affected.]
isolated trigonocephaly	MONDO_0018065	[Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.]
isolated craniosynostosis	MONDO_0015337	[A craniosynostosis that is not part of a larger syndrome.]
trigonocephaly	MONDO_0000156
central nervous system development	GO_0007417
system development	GO_0048731
trisomy 13	MONDO_0018068	[Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.]
syndromic diaphragmatic or abdominal wall malformation	MONDO_0015216	[A diaphragmatic or abdominal wall malformation that is part of a larger syndrome.]