Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Hyperapobetalipoproteinemia	HP_0008158	[Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.]
obsolete_hemochromatosis type 3	Orphanet_225123
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	Orphanet_308041
Disease with punctate palmoplantar keratoderma as a major feature	Orphanet_308023
obsolete_familial flecked retinopathy	Orphanet_227786
Bm4 B cell	CL_0000966	[A germinal center B cell that has the phenotype CD77-negative, IgD-negative, and CD38-positive. These cells have undergone somatic mutation of the B cell receptor.]
germinal center B cell	CL_0000844	[A rapidly cycling mature B cell that has distinct phenotypic characteristics and is involved in T-dependent immune responses and located typically in the germinal centers of lymph nodes. This cell type expresses Ly77 after activation.]
Bm3 B cell	CL_0000965	[A germinal center B cell that is rapidly dividing and has the phenotype IgD-negative, CD38-positive, and CD77-positive. Somatic hypermutation of the immunoglobulin V gene region can occur during proliferation of this cell type.]
Bm2' B cell	CL_0000964	[A germinal center B cell that founds a germinal center, and has the phenotype IgD-positive, CD38-positive, and CD23-negative.]
Bm3-delta B cell	CL_0000963	[A germinal center B cell that develops from a Bm3 B cell. This cell has the phenotype IgM-negative, IgD-positive, and CD38-positive.]
regulatory B cell	CL_0000969	[A mature B cell that has the phenotype CD1d-positive and expresses interleukin-10. This cell type has been associated with suppression of chronic inflammatory responses and T cell responses.]
mature B cell	CL_0000785	[A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen.]
Bm5 B cell	CL_0000967	[A memory B cell arising in the germinal center that is IgD-negative and has undergone somatic mutation of the variable region of the immunoglobulin heavy and light chain genes.]
memory B cell	CL_0000787	[A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative.]
obsolete facial nerve palsy due to herpes zoster infection	MONDO_0017606
caudal regression sequence	MONDO_0017607	[Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.]
IgA memory B cell	CL_0000973	[A class switched memory B cell that expresses IgA.]
IgM memory B cell	CL_0000971	[An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative.]
unswitched memory B cell	CL_0000970	[An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative.]
Methanococcus	NCBITaxon_2184