Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Turner syndrome	Orphanet_881
Rocker bottom foot	HP_0001838	[The presence of both a prominent heel and a convex contour of the sole.]
Abnormal talus morphology	HP_0008365	[An abnormality of the talus.]
Metatarsus adductus	HP_0001840	[The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.]
docosatrienoate	CHEBI_78895	[A polyunsaturated fatty acid anion containing 22 carbons and 3 double bonds. Major species at pH 7.3.]
docosadienoate	CHEBI_78894	[A fatty acid anion with 22 carbons and 2 double bonds. Major species at pH 7.3.]
2-linoleoyl-sn-glycero-3-phosphoethanolamine	CHEBI_76233	[A 2-acyl-sn-glycero-3-phosphoethanolamine in which the acyl group is specified as linoleoyl.]
telecanthus-hypertelorism-strabismus-pes cavus syndrome	MONDO_0017997	[Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.]
adrenomyeloneuropathy	MONDO_0015339	[An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.]
fatty acid hydroxylase-associated neurodegeneration	MONDO_0017999	[Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.]
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	MONDO_0017992
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	MONDO_0017994
obsolete_mitochondrial DNA depletion syndrome, encephalomyopathic form	Orphanet_254803
spondylocostal dysostosis-hypospadias-intellectual disability syndrome	MONDO_0017995
obsolete rare developmental defect with connective tissue involvement	MONDO_0015332
Cordyceps militaris	NCBITaxon_73501
catecholaminergic polymorphic ventricular tachycardia	MONDO_0017990	[Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.]
obsolete_multiple mitochondrial DNA deletion syndrome	Orphanet_254807
diquat	CHEBI_64163
group assignment	OBI_0600015	[group assignment is a process which has an organism as specified input and during which a role is assigned, Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group.]