Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Autosomal recessive spastic paraplegia type 7	Orphanet_99013
Rare genetic palpebral, lacrimal system and conjunctival disease	Orphanet_183598
Spastic paraplegia type 2	Orphanet_99015	[Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.]
Genetic renal tumor	Orphanet_183595
camptothecin	CHEBI_27656	[A pyranoindolizinoquinoline that has formula C20H16N2O4.]
obsolete_Autosomal recessive optic atrophy, OPA6 type	Orphanet_99012
obsolete_floor plate rhombomere 8	EFO_0003570	[Floor plate that is part of the rhombomere 8.]
obsolete_mesenchyme derived from head neural crest	EFO_0003572
obsolete_spinal cord interneuron	EFO_0003571
obsolete_neural crest telencephalon	EFO_0003574	[Cranial neural crest that is part of the telencephalon.]
obsolete_neural crest diencephalon	EFO_0003573	[Cranial neural crest that is part of the diencephalon.]
obsolete_opercular lateral line neuromast	EFO_0003576
obsolete_infraorbital lateral line neuromast	EFO_0003575
obsolete_primary neuron hindbrain	EFO_0003578
obsolete_nucleus of the medial longitudinal fasciculus medulla oblongata	EFO_0003577
obsolete_rhombomere 2	EFO_0003579	[Hindbrain segment or neuromere.]
obsolete_hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Orphanet_217467
Adult-onset autosomal dominant leukodystrophy	Orphanet_99027
Low intraocular pressure	HP_0032547	[An abnormal decrease of the pressure within the eye.]
vanillylmandelate	CHEBI_27622	[A hydroxy monocarboxylic acid anion that is the conjugate base of vanillylmandelic acid.]