Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	MONDO_0014487	[Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.]
sphingomyelin 16:1	CHEBI_143616	[A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 16 with 1 double bond.]
sphingomyelin 14:0	CHEBI_143615	[A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 14 with 0 double bonds.]
triacylglycerol 58:12	CHEBI_143619	[A triglyceride in which the three acyl groups contain a total of 58 carbons and 12 double bonds.]
sphingomyelin 18:1	CHEBI_143618	[A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 18 with 1 double bond.]
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	MONDO_0014483
sphingomyelin 18:0	CHEBI_143617	[A sphingomyelin in which the total number of carbons in the sphingoid base and fatty acyl groups is 18 with 0 double bonds.]
Ile-Gly	CHEBI_74066	[A dipeptide formed from L-isoleucine and glycine residues.]
familial cold autoinflammatory syndrome 4	MONDO_0014498	[Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.]
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	MONDO_0014493	[A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.]
autoimmune lymphoproliferative syndrome	MONDO_0017979	[Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.]
polyendocrine-polyneuropathy syndrome	MONDO_0014497
Cryptopygus antarcticus	NCBITaxon_187623
style	PO_0009074	[An elongated part of a carpel or group of fused carpels between the ovary and the stigma, and through which the pollen tube grows.]
carpel	PO_0009030	[A megasporophyll, almost always at the center of a flower, its margins more or less fused together or with other carpels to enclose the ovule(s).]
stigma	PO_0009073	[The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate.]
plant ovary	PO_0009072	[A plant structure (PO:0009011) that is the basal portion of a carpel (PO:0009030) or group of fused carpels and encloses the plant ovule(s) (PO:0020003).]
gynoecium	PO_0009062	[A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046).]
seed coat	PO_0009088	[A portion of plant tissue that is the covering of a seed derived from ovular - mainly integumentary - tissue.]
bucladesine	CHEBI_50095