Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
dermal dendritic cell	CL_0001006	[Dermal dendritic cell is a conventional dendritic cell that is CD11b-positive, CD205-positive and CD8 alpha-negative.]
CD11b-positive dendritic cell	CL_0002465	[A conventional dendritic cell that expresses CD11b (ITGAM).]
incontinentia pigmenti	MONDO_0010631	[Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).]
decreased concentration	PATO_0001163	[A concentration which is lower relative to the normal or average.]
mature CD8_alpha-positive CD11b-negative dendritic cell	CL_0001005	[Mature CD8_alpha-positive CD11b-negative dendritic cell is a CD8_alpha-positive CD11b-negative dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive.]
immature CD8_alpha-positive CD11b-negative dendritic cell	CL_0001004	[Immature CD8_alpha-positive CD11b-negative dendritic cell is a CD8_alpha-positive CD11b-negative dendritic cell that is CD80-low, CD86-low, and MHCII-low.]
mature CD8_alpha-negative CD11b-positive dendritic cell	CL_0001003	[Mature CD8_alpha-negative CD11b-positive dendritic cell is a CD8_alpha-negative CD11b-positive dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive.]
CD4-positive CD11b-positive dendritic cell	CL_0000999	[CD8_alpha-negative CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-positive and is CD205-negative and CD8_alpha-negative.]
developmental and epileptic encephalopathy, 1	MONDO_0010632	[Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.]
increased concentration	PATO_0001162	[A concentration which is higher relative to the normal or average.]
obsolete_isolated congenital microcephaly	Orphanet_199642
obsolete_hereditary sensory and autonomic neuropathy type 7	Orphanet_391397
obsolete_isolated encephalocele	Orphanet_199647
Cortical dysplasia - focal epilepsy syndrome	Orphanet_163681
immature dermal dendritic cell	CL_0001009	[Immature dermal dendritic cell is a dermal dendritic cell that is CD80-low, CD86-low, and MHCII-low.]
Leukoencephalopathy - dystonia - motor neuropathy	Orphanet_163684
Kit and Sca1-positive hematopoietic stem cell	CL_0001008	[A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative.]
hematopoietic stem cell	CL_0000037	[A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119.]
hyper-IgM syndrome type 1	MONDO_0010626	[The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.]
hyper-IgM syndrome with susceptibility to opportunistic infections	MONDO_0015975