Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
XFE progeroid syndrome	MONDO_0012590	[A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.]
brain-lung-thyroid syndrome	MONDO_0012593	[Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).]
complement factor I deficiency	MONDO_0012594
osteogenesis imperfecta type 5	MONDO_0012591	[Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).]
transposable element identification design	EFO_0005692	[transposable element identification design type aims to discover non-reference transposable element (TE) insertions from whole genome sequencing data.]
biomolecular annotation design	EFO_0004665	[Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping.]
mobile element identification design	EFO_0005693	[mobile element identification design type aims to discover the mobile element (ME) insertions from whole genome sequencing data. The methodology may include the translation of read-pair and split-read mapping signals to detect ME insertions (MEIs).]
musical aptitude	EFO_0005690
plasma trimethylamine N-oxide measurement	EFO_0005691	[The quantification in blood of trimethylamine N-oxide, a product of gut microbiome and hepatic-mediated metabolism of dietary choline and L-carnitine]
D721Med	EFO_0005696	[Medulloblastoma (aka D721), surgical resection from a patient with medulloblastoma as described by Darrell Bigner (1997)]
infantile liver failure syndrome 1	MONDO_0024568	[Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.]
M059J	EFO_0005697	[M059J cells were isolated from a tumor specimen taken from a 33 year old male with untreated malignant glioblastoma. The cells were isolated concurrently from the same tumor specimen as M059K (see CRL-2365).]
KMS-11	EFO_0005694	[KMS-11 cell line was derived from four patients with multiple myeloma. These cells represent a later stage of B-cell differentiation, and shows characteristics of plasma cells by secreting surface kappa chain immunoglobulins.]
CMK	EFO_0003037
clear cell	EFO_0003036	[A cell with empty-appearing cytoplasm when viewed with a light microscope.]
Daoy	EFO_0005698	[The Daoy cell line was established in 1985 by P. F Jacobsen of the Royal Perth Hospital in Western Australia. The line was derived from biopsy material taken from a tumor in the posterior fossa of a 4 year old boy.]
desmoplastic medulloblastoma	EFO_0005699	[A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.]
EAhy 926 cell	EFO_0003039	[The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy.]
obsolete_colon mucosa	EFO_0003038
Malpighian tubule primordium	FBbt_00000442