Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Alternaria alternata	NCBITaxon_5599
obsolete_Y chromosome number anomaly	Orphanet_263746
obsolete_low phospholipid associated cholelithiasis	Orphanet_69663
obsolete_X and Y chromosomal anomaly	Orphanet_263749
obsolete_partial monosomy of the short arm of chromosome X	Orphanet_263731
renal medulla	UBERON_0000362	[The inner portion of the kidney consisting of the renal pyramids.]
kidney	UBERON_0002113	[A paired organ of the urinary tract which has the production of urine as its primary function.]
obsolete_juvenile Huntington disease	Orphanet_248111
urothelium	UBERON_0000365	[An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra.]
renal system	UBERON_0001008	[The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products.]
blastocyst	UBERON_0000358	[The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO].]
N-acetylcarnosine	CHEBI_67249	[A dipeptide that is the N-acetyl derivative of carnosine.]
obsolete_Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	Orphanet_31043	[Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.]
Congenital lactic acidosis	HP_0004902	[A form of lactic acidemia with congenital onset.]
Abnormality of metabolism/homeostasis	HP_0001939
obsolete_tegmentum	EFO_0000921
obsolete_substantia nigra	EFO_0000922	[The substantia nigra is located in the mesencephalon (mid brain) region of the brain. It is part of the basal ganglia., Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons.]
obsolete_hindbrain	EFO_0000923	[The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. From Neuroanatomy of the Zebrafish Brain., Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata . Examples: There is only one hindbrain., The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995., The posterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes the cerebellum, the medulla oblongata, and in mammals the pons and that controls autonomic functions and equilibrium.]
obsolete_medulla oblongata	EFO_0000924	[Brain structure that is located ventrocaudal to the cerebellum and just anterior to the spinal cord and contains the sensory and motor nuclei of six cranial nerves. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here., The part of the vertebrate brain that is continuous posteriorly with the spinal cord and that contains the centers controlling involuntary vital functions., Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. Examples: There is only one medulla oblongata.]
obsolete_glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Orphanet_238763