Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Abnormal number of hair whorls	HP_0010813	[More than two clockwise hair whorls.]
obsolete_high anorectal malformation	Orphanet_171201
response to perphenazine	GO_0097334	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a perphenazine stimulus.]
response to quetiapine	GO_0097335	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a quetiapine stimulus.]
cancer affecting bone of limb skeleton	MONDO_0024311	[A cancer that involves the limb bone.]
response to risperidone	GO_0097336
response to ziprasidone	GO_0097337	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ziprasidone stimulus.]
response to clozapine	GO_0097338	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a clozapine stimulus.]
obsolete_intermediate anorectal malformation	Orphanet_171208
neuromedin U	EFO_0003266	[Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus.]
chronic pain syndrome	MONDO_0024317	[Chronic form of disorder involving pain.]
Upper limb undergrowth	HP_0009824	[Arm shortening because of underdevelopment of one or more bones of the upper extremity.]
Limb undergrowth	HP_0009826	[Limb shortening because of underdevelopment of one or more bones of the extremities.]
osmotic diuretic	CHEBI_50504	[Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma.]
sweetening agent role	CHEBI_50505	[Substance that sweeten food, beverages, medications, etc.]
neurodevelopmental disorder with hypotonia, seizures, and absent language	MONDO_0014995
hereditary spastic paraplegia 29	MONDO_0012334	[Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.]
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	MONDO_0014994
short stature-delayed bone age due to thyroid hormone metabolism deficiency	MONDO_0012332	[Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.]
myofibrillar myopathy 8	MONDO_0014993	[Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.]