Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
methylmalonic aciduria and homocystinuria type cblC	MONDO_0010184	[A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.]
ES-Bruce4	EFO_0005483	[An embryonic cell line isolated from C57BL/6 mouse strain. Injection of Bruce4 cells into C57BL/6 blastocysts will produce agouti chimeras.]
46C	EFO_0005484	[46C is an embryonic stem cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]]
embryonic stem cell	CL_0002322	[A stem cell of embryonic origin.]
chromosome 13q trisomy	MONDO_0022177
Patski	EFO_0005481	[Mouse Embryonic Kidney Fibroblast. As described in Lingenfelter et al., 1998 (Nat Genet. 1998 18:212-3) and Yang et al., 2010 (Genome Res. 2010 20:614-22), PATSKI is a female interspecific mouse fibroblast that was derived from the embryonic kidney of an M.spretus x C57BL/6J hybrid mouse such that the C57Bl/6J X chromosome (maternal) is always the inactive X. This is an adherent cell line.]
416B	EFO_0005482	[Mouse hematopoietic suspension cell line positive for CD34. The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]]
DZ685	EFO_0005487
NW1229	EFO_0005488
TT2	EFO_0005485	[ES-cells isolated from C57BL/6xCBA]
dye role	CHEBI_37960
J185a	EFO_0005486	[Fetal myoblast Desmin+]
LX837	EFO_0005489
chromosome 11q trisomy	MONDO_0022173
chromosome 12p deletion	MONDO_0022174	[A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.]
anterior endoderm anlage	FBbt_00000210
AG13066	CLO_0022132	[GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)]
white forelock with malformations	MONDO_0010199	[White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.]
von Willebrand disease 3	MONDO_0010191	[Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).]
superior frontal gyrus	UBERON_0002661	[Component of the frontal lobe, lateral aspect. The rostral boundary is the first appearance of the superior frontal sulcus whereas the caudal boundary is the midpoint of the paracentral sulcus on the 'inflated' surface. The medial and lateral boundaries are the medial aspect of the frontal lobe and the superior frontal sulcus respectively (Christine Fennema-Notestine).]