Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
tumor of cranial and spinal nerves	MONDO_0016749
mixed germ cell tumor of central nervous system	MONDO_0016742	[A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.]
mixed extragonadal germ cell cancer	MONDO_0000524	[A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.]
central nervous system germ cell tumor	MONDO_0003000	[A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.]
nucleobase-containing compound biosynthetic process	GO_0034654	[The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids.]
nucleobase-containing compound metabolic process	GO_0006139	[ Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. ]
organic cyclic compound biosynthetic process	GO_1901362	[ The chemical reactions and pathways resulting in the formation of organic cyclic compound. ]
heterocycle biosynthetic process	GO_0018130	[ The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). ]
HL-1 cell	BTO_0003264	[ A cardiac muscle cell line from the AT-1 mouse atrial cardiomyocyte tumor lineage; established from an adult female Jackson Laboratory-inbred C57BLy6J mouse. ]
obsolete_hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	Orphanet_324525
Prunus necrotic ringspot virus	NCBITaxon_37733
Enterococcus casseliflavus	NCBITaxon_37734
thyroid cancer	MONDO_0002108	[A malignant neoplasm involving the thyroid gland]
cheilitis	MONDO_0002102	[An inflammatory process affecting the lip.]
cardiovascular cancer	MONDO_0002100	[A primary or metastatic malignant neoplasm involving the cardiovascular system.]
Dental crowding	HP_0000678	[Changes in alignment of teeth in the dental arch]
malignant triton tumor	MONDO_0016757	[Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.]
nitrogen compound metabolic process	GO_0006807	[ The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen, including (but not limited to) nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium. ]
microcephaly-brain defect-spasticity-hypernatremia syndrome	MONDO_0016758	[Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.]
pontocerebellar hypoplasia type 2	MONDO_0016759	[Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.]