Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Acromesomelia	HP_0003086	[Small hands and feet.]
cognitive behavioural therapy	EFO_0007820	[CBT is a psychosocial intervention that is the most widely used evidence-based practice for treating mental disorders. Guided by empirical research, CBT focuses on the development of personal coping strategies that target solving current problems and changing unhelpful patterns in cognitions (e.g., thoughts, beliefs, and attitudes), behaviors, and emotional regulation. It was originally designed to treat depression, and is now used for a number of mental health conditions.]
hair shape measurement	EFO_0007824	[quantification of some aspect of hair shape, eg whether it is curly or straight]
hair morphology measurement	EFO_0007821	[quantification of some aspect of hair morphology such as hair density, colour, thickness or growth pattern]
X-linked distal spinal muscular atrophy type 3	MONDO_0010338	[X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.]
facial hair thickness measurement	EFO_0007823	[quantification of the thickness or density of facial air, including beards and eyebrows]
X-linked intellectual disability-cerebellar hypoplasia syndrome	MONDO_0010337	[X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.]
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	MONDO_0009359
hair colour measurement	EFO_0007822	[quantification of some aspect of hair colour, such as whether greying occurs, how advanced greying is or qualification to what colour family hair belongs]
hair color	EFO_0003924	[Color of hair or fur.]
guanidinoacetate methyltransferase deficiency	MONDO_0012999	[Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.]
cerebral creatine deficiency syndrome	MONDO_0000456	[Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.]
creatine biosynthetic process disease	MONDO_0045018	[A disease that has its basis in the disruption of creatine biosynthetic process.]
X-linked epilepsy-learning disabilities-behavior disorders syndrome	MONDO_0010339	[X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).]
daytime rest measurement	EFO_0007828	[quantification of some aspect of daytime rest such as duration, frequency or quality]
sleep measurement	EFO_0004870	[Is a quantification of some sleep parameter.]
nighttime rest measurement	EFO_0007827	[quantification of some aspect of nighttime rest such as duration or quality]
methylcobalamin deficiency type cblE	MONDO_0009354	[An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.]
balding measurement	EFO_0007825	[quantification of the amount of balding in an individual]
homocystinuria due to methylene tetrahydrofolate reductase deficiency	MONDO_0009353	[Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.]