Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Congenital osteogenesis imperfecta - microcephaly - cataracts	Orphanet_2772
analgesia requirement measurement	EFO_0008544	[Quantification of the amount of analgesic drug required during a painful procedure such as surgery.]
obsolete_Bruck syndrome	Orphanet_2771
obsolete_Li-Fraumeni syndrome	Orphanet_524	[Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).]
Malignant Breast Phyllodes Tumor	EFO_0008545	[A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.]
breast phyllodes tumor	MONDO_0021047	[A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.]
malignant phyllodes tumor	MONDO_0037003	[A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.]
Nasu-Hakola disease	Orphanet_2770	[Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.]
obsolete_hereditary leiomyomatosis and renal cell cancer	Orphanet_523
obsolete_microcytic anemia with liver iron overload	Orphanet_83642
complement C3d subcomponent measurement	EFO_0008542	[Quantification of the amount of complement C3d subcomponent in a blood sample.]
2-hydroxypalmitate measurement	EFO_0021507	[Quantification of the amount of 2-hydroxypalmitate measurement in a sample.]
2-hydroxyglutarate measurement	EFO_0021506	[Quantification of the amount of 2-hydroxyglutarate measurement in a sample.]
Osteopathia striata - pigmentary dermopathy - white forelock	Orphanet_2779
cholate measurement	EFO_0021509	[Quantification of the amount of cholate measurement in a sample.]
4-hydroxyhippurate measurement	EFO_0021508	[Quantification of the amount of 4-hydroxyhippurate measurement in a sample.]
obsolete_osteomesopyknosis	Orphanet_2777
cortical surface area change measurement	EFO_0021503	[Quantification of the change in cortical surface area over time.]
obsolete_autosomal recessive distal osteolysis syndrome	Orphanet_2776
lateral ventricle volume change measurement	EFO_0021502	[Quantification of the change in lateral ventricle volume over time.]