Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
anomaly of puberty or/and menstrual cycle	MONDO_0015860
facial neuralgia	EFO_0009380	[Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. [ MeSH:D005156 ], Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.]
facial nerve disease	EFO_1002051	[A disease involving the facial nerve.]
cranial neuralgia	MONDO_0016374	[A neuralgia that involves the cranial neuron projection bundle.]
adactyly of foot	MONDO_0018563
non-syndromic terminal limb defects	MONDO_0017421
fibroblast growth factor 23 measurement	EFO_0009381	[Quantification of the amount of fibroblast growth factor 23 in a sample]
phosphate ion homeostasis	GO_0055062	[Any process involved in the maintenance of an internal steady state of phosphate ions within an organism or cell.]
genetic otorhinolaryngological malformation	MONDO_0018562
genetic head and neck malformation	MONDO_0015961
genetic otorhinolaryngologic disease	MONDO_0018751	[An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.]
phosphatidylcholine 36:1 measurement	EFO_0010379	[The quantification of phosphatidylcholine 36:1 levels in a sample.]
phosphatidylcholine measurement	EFO_0010226	[A quantification of phosphatidylcholines.]
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation	Orphanet_1970
Genetic syndrome with a Dandy-Walker malformation as major feature	Orphanet_269570
phosphatidylcholine 34:3 measurement	EFO_0010377	[The quantification of phosphatidylcholine 34:3 levels in a sample.]
phosphatidylcholine 34:4 measurement	EFO_0010378	[The quantification of phosphatidylcholine 34:4 levels in a sample.]
nervous system disease	EFO_0000618	[a general class of medical conditions affecting the nervous system., A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.]
phosphatidylcholine 34:1 measurement	EFO_0010375	[The quantification of phosphatidylcholine 34:1 levels in a sample.]
phosphatidylcholine 34:2 measurement	EFO_0010376	[The quantification of phosphatidylcholine 34:2 levels in a sample.]