Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
thyrocyte	EFO_0003076	[An epithelial cell lining the thyroid follicle.]
obsolete_X-linked agammaglobulinemia	EFO_0003079	[A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement., X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells.]
obsolete_yolk sac	EFO_0003078
obsolete_Weill-Marchesani syndrome	Orphanet_3449
obsolete_Weaver-Williams syndrome	Orphanet_3448	[Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977.]
obsolete_Weaver syndrome	Orphanet_3447
Monosomy 22q13	Orphanet_48652
cytochalasin B	CHEBI_23527
obsolete_spinocerebellar ataxia type 17	EFO_0003091
obsolete_spinocerebellar ataxia type 7	EFO_0003090
obsolete_adrenocortical carcinoma	EFO_0003093
obsolete_neurofibromatosis	EFO_0003092	[An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas.]
non-alcoholic fatty liver disease	EFO_0003095	[A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.]
ganglioglioma	EFO_0003094	[A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)]
Pick disease	EFO_0003096	[A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.]
frontotemporal dementia	MONDO_0017276	[Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.]
obsolete_meningioma	EFO_0003098	[A tumor of meningothelial cells that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges.]
Bradyrhizobium japonicum	NCBITaxon_375
Xanthomonas campestris pv. campestris	NCBITaxon_340
salicyluric acid	CHEBI_9008	[An N-acylglycine in which the acyl group is specified as 2-hydroxybenzoyl.]