Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Oryza sativa Japonica Group	NCBITaxon_39947
Oryza sativa Indica Group	NCBITaxon_39946
obsolete_Bartter syndrome with hypocalcemia	Orphanet_263417	[Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)]
BALB/c	EFO_0000602	[BALB/c is a mouse strain of albion mice.]
Niemann-Pick disease type C, severe perinatal form	MONDO_0016306
Niemann-Pick disease type C	MONDO_0018982	[NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.]
craniorachischisis	MONDO_0018969	[Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.]
BALB/cByJ	EFO_0000603	[BALB is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/001026.html]
iniencephaly	MONDO_0018968	[Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.]
Niemann-Pick disease type C, severe early infantile neurologic onset	MONDO_0016307
C57BL/10	EFO_0000604	[C57BL/10 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/searches/reference.cgi?7550]
C57BL	EFO_0005181	[An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology.]
Niemann-Pick disease type C, late infantile neurologic onset	MONDO_0016308
obsolete_C57BL/6 (duplicate)	EFO_0000605	[C57BL/6 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/external/festing/mouse/docs/C57BL.shtml]
Niemann-Pick disease type C, juvenile neurologic onset	MONDO_0016309
ribonucleotide metabolic process	GO_0009259	[ The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. ]
nucleotide metabolic process	GO_0009117	[ The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). ]
isolated congenitally uncorrected transposition of the great arteries	MONDO_0016302
dextro-looped transposition of the great arteries	MONDO_0019443	[Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.]
obsolete_mouse strain	EFO_0000607	[Strain or line specific to mouse]