Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
genetic trait	EFO_0000511	[Genetic traits are small inherited parts of the phenotype of an organism]
Pacific Islander	HANCESTRO_0574
obsolete_myopathic intestinal pseudoobstruction	Orphanet_104077
nucleoside monophosphate metabolic process	GO_0009123	[ The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. ]
genotype	EFO_0000513	[The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment.]
genome	EFO_0004420	[A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses).]
obsolete_Hypotonia-speech impairment-severe cognitive delay syndrome	Orphanet_371364
purine ribonucleoside monophosphate metabolic process	GO_0009167	[ The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. ]
purine nucleoside monophosphate metabolic process	GO_0009126	[ The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. ]
purine ribonucleoside monophosphate biosynthetic process	GO_0009168	[ The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. ]
purine nucleoside monophosphate biosynthetic process	GO_0009127	[ The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. ]
nucleoside phosphate biosynthetic process	GO_1901293	[ The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. ]
Leber congenital amaurosis	MONDO_0018998	[Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.]
syndromic keratoconus	MONDO_0020211	[A keratoconus (disease) that is part of a larger syndrome.]
syndromic hyperopia	MONDO_0020210	[A hyperopia that is part of a larger syndrome.]
Noonan syndrome	MONDO_0018997	[Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.]
malposition of external canthus	MONDO_0020167
infantile systemic hyalinosis	MONDO_0016331	[Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.]
hyaline fibromatosis syndrome	MONDO_0009229
Charcot-Marie-Tooth disease type X	MONDO_0018994	[A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.]