Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital enteropathy involving intestinal mucosa development	MONDO_0015182
hydrocephaly-cerebellar agenesis syndrome	MONDO_0010612	[This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.]
obsolete_2p21 microdeletion syndrome	Orphanet_163693	[The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.]
X-linked congenital generalized hypertrichosis	MONDO_0010614	[X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.]
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	MONDO_0010617	[This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.]
X-linked dominant hypophosphatemic rickets	MONDO_0010619	[X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.]
X-linked dominant disease	MONDO_0020604	[X-linked dominant form of disease.]
X-linked hypophosphatemic rickets	MONDO_0020720
familial isolated hypoparathyroidism due to agenesis of parathyroid gland	MONDO_0010618	[Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).]
concentrated	PATO_0001159	[A concentration quality inhering in a bearer by virtue of the bearer's exhibiting concentration.]
concentration of	PATO_0000033	[A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance.]
mature CD8_alpha-negative CD11b-negative dendritic cell	CL_0001002	[Mature CD8_alpha-negative CD11b-negative dendritic cell is a CD8_alpha-negative CD11b-negative dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive.]
mature conventional dendritic cell	CL_0000841	[A mature cell of the conventional dendritic cell lineage, characterized by a high capacity for antigen presentation and typically found in a lymph node.]
CD8_alpha-negative CD11b-negative dendritic cell	CL_0000998	[CD8_alpha-negative CD11b-negative dendritic cell is a conventional dendritic cell that is CD11b-negative, CD4-negative CD8_alpha-negative and is CD205-positive. This cell is able to cross- present antigen to CD8-alpha-positive T cells.]
obsolete_familial episodic pain syndrome with predominantly lower limb involvement	Orphanet_391392
immature CD8_alpha-negative CD11b-negative dendritic cell	CL_0001001	[Immature CD8_alpha-negative CD11b-negative dendritic cell is a CD8_alpha-negative CD11b-negative dendritic cell that is CD80-low, CD86-low, and MHCII-low.]
immature conventional dendritic cell	CL_0000840	[An immature cell of the conventional dendritic cell lineage, characterized by high levels of antigen uptake via endocytosis, macropinocytosis, and phagocytosis, and typically found resident in the tissues. Markers for this cell are CD80-low, CD86-low, and MHC-II-low.]
CD8_alpha-positive CD11b-negative dendritic cell	CL_0001000	[CD8_alpha-positive CD11b-negative dendritic cell is a conventional dendritic cell that is CD11b-negative, CD4-negative and is CD205-positive and CD8_alpha-positive.]
conventional dendritic cell	CL_0000990	[Conventional dendritic cell is a dendritic cell that is CD11c-high.]
myeloid leukocyte	CL_0000766	[A cell of the monocyte, granulocyte, or mast cell lineage.]