Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_partial duplication of the long arm of chromosome 22	Orphanet_263004
anaplastic ependymoma	MONDO_0016700	[Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.]
oligoastrocytic tumor	MONDO_0016701
mixed glioma	MONDO_0003268	[A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).]
obsolete_2q32q33 microdeletion syndrome	Orphanet_251019	[2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.]
submandibular gland neoplasm	EFO_1001853	[A neoplasm (disease) that involves the submandibular gland.]
Hepatitis C virus	NCBITaxon_11103
obsolete_2q31.1 microdeletion syndrome	Orphanet_251014	[2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.]
rectum carcinoma in situ	MONDO_0004725	[A in situ carcinoma that involves the rectum.]
intestine carcinoma in situ	MONDO_0004698	[A carcinoma in situ involving a intestine.]
Vigna unguiculata	NCBITaxon_3917
allyl alcohol	CHEBI_16605
Vicia narbonensis	NCBITaxon_3912
trichloroethylene	CHEBI_16602	[A chloroethene that has formula C2HCl3.]
inhalation anaesthetic	CHEBI_38870
central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	MONDO_0016713	[A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.]
early telencephalic vesicle	UBERON_0009676
ventricular system of central nervous system	UBERON_0005281	[A set of structures containing cerebrospinal fluid in the brain. It is continuous with the central canal of the spinal cord[WP].]
future brain	UBERON_0006238	[The embryonic precursor of the brain.]
ependymoblastoma	MONDO_0016715	[Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.]