Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Hemolytic anemia due to a disorder of glycolytic enzymes	Orphanet_98372
theca cell layer	UBERON_0000155	[A layer of the ovarian follicle that consists of theca cells.]
nasal disorder	MONDO_0002436	[A disease involving the nose.]
skull disorder	MONDO_0024654	[A non-neoplastic or neoplastic disorder that affects structures of the skull.]
drug allergy	EFO_0009482	[Immunologically mediated adverse reactions to medicinal substances used legally or illegally., Immunologically mediated adverse reactions to medicinal substances used legally or illegally. [ MESH ]]
breast disease	EFO_0009483	[A disease involving the breast.]
pelvic fin	UBERON_0000152	[Paired fin located in the abdominal position of the body.]
fin	UBERON_0008897	[An external projection of an aquatic animal as a fish used in propelling or guiding the body[BTO].]
uterine polyp	EFO_0009484	[A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. [ NCIT ], A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.]
carnitine measurement	EFO_0010469	[Quantification of carnitine levels in a sample.]
coping behaviour measurement	EFO_0009480	[Quantification of some aspect of coping behaviour, such as emotional coping, behavioural coping, positive reappraisal, emotional support seeking or disengagement.]
cranial nerve palsy	EFO_0009489	[Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness., Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. [ NCIT ]]
fructose-1-phosphate measurement	EFO_0010478	[Quantification of fructose-1-phosphate levels in a sample.]
fructose-6-phosphate measurement	EFO_0010479	[Quantification of fructose-6-phosphate levels in a sample.]
dimethylglycine measurement	EFO_0010476	[Quantification of dimethylglycine levels in a sample.]
fructose measurement	EFO_0010477	[Quantification of fructose levels in a sample.]
eye injury	EFO_0009485	[Damage inflicted to an eye.]
cystathionine measurement	EFO_0010474	[Quantification of cystathionine levels in a sample.]
Seckel syndrome 1	MONDO_0008869	[Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.]
Seckel syndrome	MONDO_0019342	[A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.]