Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	MONDO_0009644
interstitial dendritic cell	CL_0001007	[Interstitial dendritic cell is a conventional dendritic cell that is CD11b-positive, CD1a-positive, CD206-positive, CD209-positive, and CD36-positive.]
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	MONDO_0009643
orofaciodigital syndrome type II	MONDO_0009642	[Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.]
X-linked lymphoproliferative syndrome	MONDO_0010627	[X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).]
obsolete mitochondrial complex II deficiency	MONDO_0009641
mature interstitial dendritic cell	CL_0001013	[Mature interstitial dendritic cell is a interstitial dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive.]
CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor	CL_0001012
hematopoietic oligopotent progenitor cell	CL_0002032	[A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities.]
immature interstitial dendritic cell	CL_0001011	[Immature interstitial dendritic cell is a interstitial dendritic cell that is CD80-low, CD86-low, and MHCII-low.]
mature dermal dendritic cell	CL_0001010	[Mature dermal dendritic cell is a dermal dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive.]
mature CD1a-positive Langerhans cell	CL_0001017	[Mature CD1a-positive Langerhans cell is a CD1a-positive Langerhans cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive.]
CD1a-positive Langerhans cell	CL_0001014	[CD1a-positive Langerhans cell is a Langerhans_cell that is CD1a-positive and CD324-positive.]
Abnormal platelet aggregation	HP_0030402	[An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.]
immature CD1a-positive Langerhans cell	CL_0001016	[Immature CD1a-positive Langerhans cell is a CD1a-positive Langerhans cell that is CD80-low, CD86-low, and MHCII-low.]
X-linked diffuse leiomyomatosis-Alport syndrome	MONDO_0010641	[The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.]
partial deletion of the long arm of chromosome X	MONDO_0017007
obsolete_combined immunodeficiency due to STIM1 deficiency	Orphanet_317430
CD8_alpha-low Langerhans cell	CL_0001015	[CD8_alpha-low Langerhans cell is a Langerhans cell that is CD205-high and is CD8_alpha-low.]
obsolete_growth retardation-mild developmental delay-chronic hepatitis syndrome	Orphanet_391366