Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CCD-25Lu	EFO_0005364
CCD-29Lu	EFO_0005365
bone marrow transplantation	EFO_0020989	[A procedure to replace diseased bone marrow with transplanted healthy bone marrow cells.]
HFL1	EFO_0005368
Granta-519	EFO_0005369
response to ustekinumab	EFO_0020986	[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 ustekinumab stimulus. Ustekinumab is a human immunoglobulin monoclonal antibody, used in the treatment of eg. psoriasis.]
mastectomy	EFO_0020987	[Surgical removal of the breast.]
DOORS syndrome	MONDO_0009079	[DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.]
deafness-onychodystrophy syndrome	MONDO_0017922	[Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.]
blood transfusion	EFO_0020988	[The injection of whole blood or a blood component directly into the bloodstream]
dependence on enabling machines and devices	EFO_0020981	[Dependence on enabling machines and devices, such as respirator, renal dialysis or wheelchair.]
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	MONDO_0010077	[Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.]
Bethlem myopathy 2	MONDO_0034022
Bethlem myopathy	MONDO_0008029	[A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.]
encounter with health service for adjustment and management of implanted device	EFO_0020982	[Encounter with a health service for adjustment and management of an implanted device, such as cardiac pacemaker or infusion pump.]
spondyloepimetaphyseal dysplasia, Irapa type	MONDO_0010076	[Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.]
deafness-small bowel diverticulosis-neuropathy syndrome	MONDO_0009086	[Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).]
Canavan disease	MONDO_0010079	[A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.]
skin sensitization	EFO_0020984	[An immunological response to previous exposure to a substance which results in an inflammatory skin reaction.]
deafness-vitiligo-achalasia syndrome	MONDO_0009085	[Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.]