Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
sporophyte vegetative stage	PO_0007134	[A sporophyte development stage (PO:0028002) that occurs during the interval between the first division of a plant zygote (PO:0000423) and the formation of a sporangium (PO:0025094).]
BNAR syndrome	MONDO_0012165	[BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.]
seedling development stage	PO_0007131	[The embryonic product of the germination of a seed; the young shoot and root axis.]
GLUT1 deficiency syndrome	MONDO_0000188	[An epileptic encephalopathy resulting from impaired glucose transport into the brain.]
glucose transport disorder	MONDO_0019226	[An acquired metabolic disease that is has its basis in the disruption of glucose transport.]
organochlorine pesticides	CHEBI_25705
agrochemical role	CHEBI_33286	[An agrochemical is a substance that is used in agriculture or horticulture.]
microcephaly and chorioretinopathy	MONDO_0000181
gastro-intestinal system smooth muscle contraction	GO_0014831	[A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the gastro-intestinal system. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The gastro-intestinal system generally refers to the digestive structures stretching from the mouth to anus, but does not include the accessory glandular organs (liver, pancreas and biliary tract).]
smooth muscle contraction	GO_0006939	[A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length.]
posterior column ataxia-retinitis pigmentosa syndrome	MONDO_0012177	[Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.]
mitochondrial trifunctional protein deficiency	MONDO_0012172	[Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..]
Emanuel syndrome	MONDO_0012176	[Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.]
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	MONDO_0012173	[Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.]
cortisone reductase deficiency	MONDO_0000193	[A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.]
polyglucosan body myopathy	MONDO_0000192
neuronal ceroid lipofuscinosis 9	MONDO_0012188	[Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.]
primary root	PO_0020127	[A root (PO:0009005) that develops directly from a seedling radicle (PO:0020127).]
tassel inflorescence	PO_0020126	[A staminate inflorescence (PO:0025601) in Zea species that bears the tassel spikelet (PO:0006309) on a terminal inflorescence axis (PO:0020122).]
staminate inflorescence	PO_0025601	[An inflorescence (PO:0009049) that includes as part only staminate flowers (PO:0025600).]