Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lobular neoplasia	MONDO_0002486	[A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.]
bone morphogenetic protein 7 measurement	EFO_0020187	[The determination of the amount of bone morphogenetic protein 7 in a sample]
Low Grade Central Osteosarcoma	EFO_1000327	[A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.]
osteosarcoma	EFO_0000637	[A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.]
bone morphogenetic protein receptor type-1a measurement	EFO_0020188	[The determination of the amount of bone morphogenetic protein receptor type-1a in a sample]
isolated brachycephaly	MONDO_0018114	[Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.]
beta-adrenergic receptor kinase 1 measurement	EFO_0020181	[The determination of the amount of beta-adrenergic receptor kinase 1 in a sample]
isolated plagiocephaly	MONDO_0018113	[Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.]
biglycan measurement	EFO_0020182	[The determination of the amount of biglycan in a sample]
galactosemia	MONDO_0018116	[Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.]
disorder of galactose metabolism	MONDO_0017690
BMP-binding endothelial regulator protein measurement	EFO_0020183	[The determination of the amount of BMP-binding endothelial regulator protein in a sample]
Acanthamoeba infectious disease	MONDO_0021747	[A infectious disease involving the Acanthamoeba.]
epidermal nevus syndrome	MONDO_0018115	[A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.]
bone morphogenetic protein 1 measurement	EFO_0020184	[The determination of the amount of bone morphogenetic protein 1 in a sample]
isolated scaphocephaly	MONDO_0018112	[Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.]
beta-2-microglobulin measurement	EFO_0020180	[The determination of the amount of beta-2-microglobulin in a sample]
thoracic segment of trunk	UBERON_0000915	[Subdivision of trunk that lies between the head and the abdomen.]
trunk	UBERON_0002100	[Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present.]
organismal segment	UBERON_0000914	[One of the repeated divisions of the whole organism.]