Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
right	EFO_0001659	[Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm.]
geometric modifier	EFO_0001648	[A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part.]
left	EFO_0001658	[Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm.]
lysophosphatidylcholine 20:4	CHEBI_64568	[An acyl-sn-glycero-3-phosphocholine in which the remaining acyl group (position not specified) contains 20 carbons with 4 double bonds.]
hearing loss, autosomal recessive 110	MONDO_0054860
cardiac anomalies-heterotaxy syndrome	MONDO_0015296	[Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.]
lysophosphatidylcholine 22:6	CHEBI_64567	[An acyl-sn-glycero-3-phosphocholine in which the acyl group (position not specified) contains 22 carbons with 6 double bonds.]
intractable diarrhea-choanal atresia-eye anomalies syndrome	MONDO_0015295	[Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.]
lysophosphatidylethanolamine 20:4	CHEBI_64569	[An acyl-sn-glycero-3-phosphoethanolamine in which the acyl group contains twenty carbons and four double bonds. If R1 is an acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphoethanolamine. If R1 is a hydrogen and R2 is an acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphoethanolamine.]
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	MONDO_0015293	[Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.]
lysophosphatidylcholine 16:1	CHEBI_64560	[An lysophosphatidylcholine in which the acyl group is hexadecenoyl (position of double bond not specified). If R1 is hexadecenoyl and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is hexadecenoyl then the molecule is a 2-acyl-sn-glycero-3-phosphocholine.]
lysophosphatidylcholine 18:0	CHEBI_64561	[A lysophosphatidylcholine in which the acyl group has a fully saturated C18 chain and is attached to the glycero moiety at either position 1 or 2.]
thioproline	CHEBI_64564	[A sulfur-containing amino acid that is proline in which the methylene group at position 4 is replaced by a sulfur atom.]
lysophosphatidylcholine 16:0	CHEBI_64563	[A lysophosphatidylcholine in which the acyl group has a fully saturated C16 chain and is attached to the glycero moiety at either position 1 or 2.]
lysophosphatidylcholine 18:1	CHEBI_64566	[A lysophosphatidylcholine in which the remaining acyl group (position not specified) contains 18 carbons with 1 double bond.]
medial	EFO_0001660	[Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus.]
ventral	EFO_0001662	[Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum.]
proximal	EFO_0001661	[Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia.]
obsolete_foreskin	EFO_0001664	[A fold of skin that covers the glans of the penis.]
aortic aneurysm	EFO_0001666	[a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall, A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta., protruding sac formed by dilation of the aorta, An abnormal balloon- or sac-like dilatation in the wall of AORTA.]