Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
tetradecanoate	CHEBI_30807	[A long-chain fatty acid anion that is the conjugate base of myristic acid; major species at pH 7.3.]
obsolete_pure mitochondrial myopathy	Orphanet_254854
alpha-methyl-L-tyrosine	CHEBI_6912
obsolete_mucopolysaccharidosis type 6, rapidly progressing	Orphanet_276212
Scylla paramamosain	NCBITaxon_85552
Streptomyces turgidiscabies	NCBITaxon_85558
mexiletine	CHEBI_6916
autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	MONDO_0017901	[A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).]
miconazole	CHEBI_6923	[Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI), An imidazole antifungal agent, commonly applied topically (to the skin) or mucus membranes to cure fungal infections. It inhibits the synthesis of ergosterol, a critical component of fungal cell membranes.]
autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	MONDO_0017902	[A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).]
immunodeficiency 28	MONDO_0013953	[Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.]
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	MONDO_0017903	[A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).]
steroid dehydrogenase deficiency-dental anomalies syndrome	MONDO_0017904	[Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.]
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	MONDO_0017900	[Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).]
pure or complex hereditary spastic paraplegia	MONDO_0017913
obsolete cleft lip/palate-ectodermal dysplasia syndrome	MONDO_0017911
obsolete_autosomal recessive progressive external ophthalmoplegia	Orphanet_254886
obsolete_spinocerebellar ataxia with epilepsy	Orphanet_254881
amyloidosis cutis dyschromia	MONDO_0017906	[Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.]
multiple synostoses syndrome	MONDO_0017923	[Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.]