Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lung volume	EFO_0600046	[Quantification of the volume of the lung.]
pancreas fat measurement	EFO_0600049	[Quantification of the fat content of the pancreas.]
liver volume	EFO_0600048	[Quantification of the volume of the liver.]
serum N-desmethylclozapine measurement	EFO_0600043	[Quantification of the levels of N-desmethylclozapine, also known as norclozapine, in blood serum. N-desmethylclozapine is a a major active metabolite of clozapine, an antipsychotic drug used to treat schizophrenia.]
autosomal dominant nocturnal frontal lobe epilepsy 5	MONDO_0014002	[Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.]
autosomal dominant nocturnal frontal lobe epilepsy	MONDO_0020300	[Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.]
sleep-related hypermotor epilepsy	MONDO_0000030
obsolete_X-linked cleft palate and ankyloglossia	Orphanet_324601
serum clozapine-to-N-desmethylclozapine ratio measurement	EFO_0600042	[Quantification of the ratio of clozapine to-N-desmethylclozapine, also known as norclozapine, in blood serum. Clozapine is an antipsychotic drug used to treat schizophrenia and N-desmethylclozapine is a a major active metabolite of clozapine.]
Classic multiminicore myopathy	Orphanet_324604
pancreas volume	EFO_0600045	[Quantification of the volume of the pancreas.]
kidney volume	EFO_0600044	[Quantification of the volume of the kidney.]
autosomal recessive primary microcephaly	MONDO_0016660	[Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.]
isolated congenital microcephaly	MONDO_0016056
personality disorder	MONDO_0002028	[A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.]
psychiatric disorder	MONDO_0002025	[A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.]
serum clozapine measurement	EFO_0600041	[Quantification of the levels of clozapine in blood serum. Clozapine is an antipsychotic drug used to treat schizophrenia.]
plasma clozapine-to-N-desmethylclozapine ratio measurement	EFO_0600040	[Quantification of the ratio of clozapine to-N-desmethylclozapine, also known as norclozapine, in blood plasma. Clozapine is an antipsychotic drug used to treat schizophrenia and N-desmethylclozapine is a a major active metabolite of clozapine.]
stromal corneal dystrophy	MONDO_0020213	[The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.]
Abnormality of the lens	HP_0000517	[An abnormality of the lens.]