Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Hispanic	EFO_0003169	[A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.]
obsolete_Hawaiian	EFO_0003168	[Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.]
Obesity due to MC3R deficiency	Orphanet_217031
autosomal recessive spinocerebellar ataxia 7	MONDO_0012235	[Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.]
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	MONDO_0014899	[Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.]
obsolete_Zechi-Ceide syndrome	Orphanet_217017
nemaline myopathy 6	MONDO_0012237	[Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.]
childhood-onset nemaline myopathy	MONDO_0015738	[Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.]
cell culture	BTO_0000214	[Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains.]
female accessory gland	FBbt_00004914	[Small, bilaterally paired gland that lies caudal to the spermathecae and is connected to the uterus by a duct (McQueen et al., 2022). The gland wall consists of a single layer of secretory cells, each with a large vacuole and a minute acidophilic granule towards the gland lumen (McQueen et al., 2022). It arises from the segment 9 (male genital) primordium in the female genital disc (McQueen et al., 2022).]
Okur-Chung neurodevelopmental syndrome	MONDO_0014893
Charcot-Marie-Tooth disease type 2A2	MONDO_0012231	[Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.]
Hereditary cryohydrocytosis with normal stomatin	Orphanet_398088
Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Orphanet_98364
obsolete_African American	EFO_0003150	[A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.]
cell suspension culture	BTO_0000221	[Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself.]
obsolete_Asian	EFO_0003152	[Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.]
restricted to specific location	MONDO_0045042
obsolete_American	EFO_0003151
obsolete_Asian/Pacific Islander	EFO_0003154	[Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.]